Uma forma grave muito rara de epilepsia com mau prognóstico que geralmente começa algumas semanas após o nascimento. A atividade convulsiva pode aparecer em vários locais do cérebro ou migrar de uma região para outra durante um episódio. Isso resulta em grave atraso no desenvolvimento.
Introdução
O que você precisa saber de cara
Uma forma grave muito rara de epilepsia com mau prognóstico que geralmente começa algumas semanas após o nascimento. A atividade convulsiva pode aparecer em vários locais do cérebro ou migrar de uma região para outra durante um episódio. Isso resulta em grave atraso no desenvolvimento.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked recessive.
Catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and mediates intracellular signaling downstream of G protein-coupled receptors (PubMed:9188725). Regulates the function of the endothelial barrier
Nucleus membraneCytoplasm
Developmental and epileptic encephalopathy 12
A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.
Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis
Rough endoplasmic reticulum membrane
Paroxysmal nocturnal hemoglobinuria 1
A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.
May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515). Involved in the regulation of synaptic vesicle trafficking (PubMed:31257402)
Cell membraneCytoplasmCytoplasmic vesicle membranePresynapse
Familial infantile myoclonic epilepsy
A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures.
Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis (PubMed:12106695). As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262)
Cell membraneCell projection, dendrite
Developmental and epileptic encephalopathy 34
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally.
Mitochondrial glutamate/H(+) symporter. Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (PubMed:11897791). Plays a role in the control of glucose-stimulated insulin secretion (By similarity)
Mitochondrion inner membrane
Developmental and epileptic encephalopathy 3
A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. DEE3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state.
Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability (PubMed:24277843, PubMed:28793216, PubMed:9836639). M-channel is composed of pore-forming subunits KCNQ2 and KCNQ3 assembled as heterotetramers (PubMed:10781098, PubMed:14534157, PubMed:32884139, PubMed:37857637, PubMed:9836639). The native M-current has a slowly activating and deactivating potassium conductance which plays a critical role in determ
Cell membrane
Seizures, benign familial neonatal 1
A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia.
Sodium-activated K(+) channel (PubMed:37494189). Acts as an important mediator of neuronal membrane excitability (PubMed:37494189). Contributes to the delayed outward currents (By similarity). Regulates neuronal bursting in sensory neurons (By similarity). Contributes to synaptic development and plasticity (By similarity)
Cell membrane
Developmental and epileptic encephalopathy 14
A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another.
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1325650, PubMed:17021166, PubMed:28256214, PubMed:29844171). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By simi
Cell membrane
Seizures, benign familial infantile, 3
A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant.
Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.
Cell membrane
Generalized epilepsy with febrile seizures plus 2
A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
Variantes genéticas (ClinVar)
683 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 6 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
17 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Convulsões focais migratórias malignas da infância
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Identification of New KCNT1-Epilepsy Drugs by In Silico, Cell, and Drosophila Modeling.
Hyperactive KCNT1 potassium channels, caused by gain-of-function mutations, are associated with a range of epilepsy disorders. Patients typically experience drug-resistant seizures and, in cases with infantile onset, developmental regression can follow. KCNT1-related disorders include epilepsy of infancy with migrating focal seizures and sleep-related hypermotor epilepsy. There are currently no effective treatments for KCNT1 epilepsies, but suppressing overactive channels poses a potential strategy. Using the KCNT1 channel structure we in silico screened a library of known drugs for those predicted to block the channel pore to inhibit channel activity. Cellular KCNT1 channel inhibition was analyzed using electrophysiology and Drosophila bang-sensitive assays were used to analyze seizure suppression. Brain penetration of one drug was analyzed using liquid chromatography-mass spectrometry in a mouse. Eight known drugs were investigated in vitro for their effects on patient-specific mutant KCNT1 channels, with 4 drugs showing significant reduction of K+ current amplitudes. The action of the 4 drugs was then analyzed in vivo and 2 were found to reduce the seizure phenotype in humanized Drosophila KCNT1 epilepsy models. One drug, antrafenine, was shown to cross the blood-brain barrier in mice. This study identified a known drug, antrafenine, that reduces KCNT1 channel activity, reduces seizure activity in Drosophila, and crosses the blood-brain barrier in the mouse, suggesting its potential applicability as a new treatment for KCNT1 epilepsy. The sequential in silico, in vitro, and in vivo mechanism-based drug selection strategy used here may have broader application for other human disorders where a disease mechanism has been identified. ANN NEUROL 2025;98:1261-1274.
Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study.
Gain-of-function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy. Fluoxetine blocks currents from both wild-type (WT) and mutant KCNT1 channels with GoF in vitro features. In this study, we tested the hypothesis that treatment with fluoxetine might improve clinical outcome in patients with EIMFS carrying GoF variants in KCNT1 channels showing in vitro sensitivity to fluoxetine blockade. We enrolled three pediatric patients carring de novo KCNT1 genetic variants linked to EIMFS. Functional and pharmacological studies to assess fluoxetine's ability to counteract in vitro variant-induced functional effects were performed with patch-clamp electrophysiology on heterologous channel expression in mammalian Chinese hamster ovary cells. Neuropsychological assessment, electroencephalogram and seizure diary were evaluated at baseline and every 3 months during the study. Electrocardiography and blood levels of medications were monitored for safety. All 3 KCNT1 variants displayed GoF effects in vitro. Exposure to fluoxetine (10μM) blocked both WT and mutant KCNT1 channels, therefore, counteracting variant-induced functional effects. Treatment with fluoxetine caused a variable reduction of seizure frequency (25-75%). Improvement in visual attention, participation, and muscle tone was also reported. No adverse events were reported except for transient dyskinesia in 1 patient, which was probably related to an increase in fluoxetine plasma level. Fluoxetine may be a potential targeted medication in EIMFS caused by KCNT1 GoF variants. Further research is needed to assess its long-term efficacy and safety. ANN NEUROL 2025;98:48-61.
Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.
KCNT1 -related epilepsy is an autosomal dominant neurodevelopmental disorder with at least 64 known human variants, each with unique electrophysiological and epileptic characteristics. A multi-disciplinary collaboration generated a novel mouse model (C57BL/6- Kcnt1 em1Bryd ) carrying the G269S variant, corresponding to human G288S, located within the coding region of the channel pore. Network excitability of cultured cortical neurons from Kcnt1 +/G269S exhibited sustained hyperexcitability and hypersynchronous bursting while Kcnt1 G269S/G269S neurons showed early excessive bursting followed by network collapse, suggesting excitotoxicity. Kcnt1 +/G269S displayed poor motor coordination, erratic breathing, and increased apneas. Critically, Kcnt1 +/G269S were more susceptible to thermal-induced seizures in early life. In summary, these data: (i) provide a novel mouse model of KCNT1-related epilepsy, (ii) provide strong in vitro evidence of neuronal hyperexcitability, (iii) illustrate early-life seizures as a functional outcome measure, and (iv) lay the groundwork for future analysis of neural activity in vivo and modeling circuit level dynamics in vitro and in silico . Gain-of-function mutations in the sodium-gated potassium channel KCNT1 have been linked to pediatric epilepsy of varying severity. The human KCNT1 variant G288S (G269S in mice) is linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE), Epilepsy of Infancy with Migrating Focal Seizures (EIMFS), and other severe developmental epileptic encephalopathies. There are currently no therapeutics to prevent the progression of KCNT1 -related epilepsy, therefore, the scientific community requires a novel mouse model that is well characterized, in vitro and in vivo, to screen and assess targeted therapeutics. Herein, we engineered a novel mouse to assess developmental and adult phenotypes resulting from the G288S/G269S variant, in vitro and in vivo , to advance translation toward therapeutic testing for individuals with KCNT1 -related epilepsy.
Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review.
Developmental and epileptic encephalopathy (DEE) is epilepsy related to developmental impairment that may be caused by both the underlying etiology (developmental encephalopathy) and superimposed epileptic activity (epileptic encephalopathy). The origin of DEE and the causes of its variations remain unknown. Owing the lack of clarity regarding the role of genetic variables in DEE, we conducted a scoping review to qualitatively identify the genes most important in the development of DEE to provide an up-to-date review. We searched all published studies related to the genetic factors of DEE. The identified publications were screened and selected by the authors on basis of on inclusion and exclusion criteria and assessed for methodological quality. Eighteen articles were included. The extracted data included age of onset, sex, gene mutations and inheritance (e.g. nucleotide change, protein change, and family testing), clinical manifestation, electroencephalogram, imaging, medication, and outcomes. A total of 18 studies were included in this scoping review. The most frequently reported gene variants were STXBP1 in Ohtahara Syndrome, SLC1A2 in Early Myoclonic Encephalopathy (EME), CDKL5 in West Syndrome, SCN1A in Dravet Syndrome, and KCNT1 in Epilepsy of Infancy with Migrating Focal Seizures (EIMFS). Each gene was associated with distinct electroclinical features, including differences in age of onset, seizure type, EEG patterns, and developmental outcomes. While genotype and phenotype associations were heterogeneous, certain variants showed consistent patterns indicative of more severe disease courses. This review identified key gene variants commonly associated with early-onset DEE in infants, particularly STXBP1, SLC1A2, CDKL5, SCN1A, and KCNT1, each linked to unique clinical presentations and outcomes. These findings support the clinical utility of next-generation sequencing (NGS) for early diagnosis and tailored treatment planning in DEE. Understanding genotype-phenotype correlations may enhance prognostication and highlight potential avenues for targeted therapy in future research.
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients with early onset epilepsies (under 2 years, 61%). Causal variants were identified in 31% of patients, spanning 78 different genes. Patients with benign familial neonatal/infantile epilepsy (BFN/IS) exhibited the highest rate of positive findings (82%). Developmental and epileptic encephalopathies (DEEs) had a global diagnostic yield of 37%, with epilepsy of infancy with migrating focal seizures (EIMFSI) and Dravet syndrome (DS) presenting the highest yield in this group (78%) and early infantile DEE (EIDEE) laying next with a yield of 43%. The lowest rates of genetic diagnosis were observed in infantile epileptic spasms syndrome (IESS, 17%), epilepsy with myoclonic-atonic seizures (EMAtS, 19%), and DEE-SWAS (14%). Patients with GEFS+ had a yield of 16%. Among patients with developmental encephalopathies and refractory seizures with onset after 2 years, TNGS yielded a 33% diagnostic rate. Atypical absences yielded 16%, focal epilepsy yielded 18%, and generalized epilepsies with refractory seizures yielded 13%. These groups exhibited a high genetic heterogeneity. TNGS is an effective first-step genetic screening in patients with high diagnostic yields (BFN/IS, EIMFS, DS, EIDEE) and for epilepsy syndromes associated with one or a few major genes (BFN/IS, EIMFS, DS, GEFS+, DEE-SWAS). Whole exome or genome sequencing (WES/WGS) should be considered as a second step in these groups with a probably relevant Mendelian inheritance. WES/WGS could be proposed as first-tier analysis in patients with IESS, EMAtS, generalized or focal epilepsies refractory to ASMs, and developmental encephalopathies with seizure onset after 2 years. However, the lower diagnostic yield obtained in these groups may suggest a complex inheritance. This study emphasizes the importance of accurately identifying different types of epilepsy and epilepsy syndromes to improve genetic testing strategies. We suggest that a targeted gene panel can be a good first step for some genetic conditions, such as benign familial neonatal/infantile epilepsy, Dravet syndrome, and epilepsy of infancy with migrating focal seizures.
Publicações recentes
Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy.
Identification of New KCNT1-Epilepsy Drugs by In Silico, Cell, and Drosophila Modeling.
Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.
Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review.
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
📚 EuropePMC44 artigos no totalmostrando 111
Identification of New KCNT1-Epilepsy Drugs by In Silico, Cell, and Drosophila Modeling.
Annals of neurologyNovel Gain of Function Mouse Model of KCNT1-Related Epilepsy.
bioRxiv : the preprint server for biologyAssociation between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review.
The Medical journal of MalaysiaGenetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Epilepsia openInsights from stereoelectroencephalography in KCNT1-related focal epilepsy suggest a multifocal and migrating epileptogenic network.
EpilepsiaFluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study.
Annals of neurologyDurable suppression of seizures in a preclinical model of KCNT1 genetic epilepsy with divalent small interfering RNA.
EpilepsiaStructure-Activity Relationship Studies in a Series of 2-Aryloxy-N-(pyrimidin-5-yl)acetamide Inhibitors of SLACK Potassium Channels.
Molecules (Basel, Switzerland)Neuromodulation strategies in developmental and epileptic encephalopathies.
Epilepsy & behavior : E&BEfficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review.
Epilepsia openStructure-Activity Relationship Studies in a Series of Xanthine Inhibitors of SLACK Potassium Channels.
Molecules (Basel, Switzerland)A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
Frontiers in molecular neuroscienceCase report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.
Frontiers in cellular neuroscience[Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThe first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes.
SeizureUse of ketogenic dietary therapy for drug-resistant epilepsy in early infancy.
Epilepsia openPotassium Channel Subfamily T Member 1(KCNT1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case Report.
JPMA. The Journal of the Pakistan Medical AssociationCorrelations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Brain : a journal of neurologyGABRB1-related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation.
Epileptic disorders : international epilepsy journal with videotapeEpilepsy of infancy with migrating focal seizures due to a novel homozygous mutation in KCNT1 gene: A case report.
SeizurePotassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention.
Biochemical pharmacologyClinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.
MedicinaApproaches for the discovery of drugs that target K Na 1.1 channels in KCNT1-associated epilepsy.
Expert opinion on drug discoveryTherapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants.
PharmaceuticsIntolerance to quinidine in a n-of-1 trial for KCNT1 associated epilepsy of infancy with migrating focal seizures.
SeizureIncidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark.
Molecular genetics and metabolism reportsAntisense oligonucleotide therapy for KCNT1 encephalopathy.
JCI insightMonoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.
Developmental medicine and child neurologyAnalysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.
Scientific reportsFunctional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes.
Molecular neurobiologyInduced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.
Stem cell researchILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
EpilepsiaSCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
Frontiers in molecular neuroscienceSCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects.
Journal of neurophysiologyKNa1.1 gain-of-function preferentially dampens excitability of murine parvalbumin-positive interneurons.
Neurobiology of diseaseA complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.
SeizureModified Sensory Testing in Non-verbal Patients Receiving Novel Intrathecal Therapies for Neurological Disorders.
Frontiers in neurologySCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Frontiers in neurologyGABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
Journal of neurology[Genotypes and clinical features of neonatal-onset genetic epilepsy in 141 patients].
Zhonghua er ke za zhi = Chinese journal of pediatricsFARS2 (Phenylalanyl-tRNA Synthetase 2) Deficiency: A Novel Mutation Associated with EEG Phenotype of Epilepsy of Infancy with Migrating Focal Seizures (EIMFS).
Journal of pediatric neurosciencesThe phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
Journal of neurologyEpilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.
GenesCase Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy.
Frontiers in geneticsCase Report of Novel Genetic Variant in KCNT1 Channel and Pharmacological Treatment With Quinidine. Precision Medicine in Refractory Epilepsy.
Frontiers in pharmacologyKCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain : a journal of neurologyUncommon epileptic syndromes in children: a review.
SeizureClinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children.
Epilepsy researchMigrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy.
Neurology. GeneticsDiscovery of the First Orally Available, Selective KNa1.1 Inhibitor: In Vitro and In Vivo Activity of an Oxadiazole Series.
ACS medicinal chemistry lettersA novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.
Epilepsia openIn silico model reveals the key role of GABA in KCNT1-epilepsy in infancy with migrating focal seizures.
EpilepsiaThe severe epilepsy syndromes of infancy: A population-based study.
EpilepsiaUtilising Automated Electrophysiological Platforms in Epilepsy Research.
Methods in molecular biology (Clifton, N.J.)An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.
Acta neurologica BelgicaThe phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Epileptic disorders : international epilepsy journal with videotapeMolecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients.
Epilepsy & behavior : E&BEarly-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.
Epileptic disorders : international epilepsy journal with videotapeKCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report.
Brain & developmentThe Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Annals of neurologyKCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.
EpilepsiaImpaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1.1) Na+-activated K+ channels.
Scientific reportsThe Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel.
Frontiers in cellular neuroscienceEpilepsy of infancy with migrating focal seizures or rigidity and multifocal seizure syndrome, lethal neonatal? Different emphases on a severe phenotype.
Developmental medicine and child neurologyEpilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.
Neurology. GeneticsBRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
Developmental medicine and child neurologyInfantile refractory seizures due to de novo KCNT 1 mutation.
BMJ case reportsKetogenic parenteral nutrition in three paediatric patients with epilepsy with migrating focal seizures.
Epileptic disorders : international epilepsy journal with videotape[Genetically determined epileptic encephalopathies].
MedicinaDevelopmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature.
Neuropediatrics[Early infantile epileptic encephalopathy type 14: three cases of epilepsy in infancy with migrating focal seizures due to KCNT1 mutations].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaKCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Brain : a journal of neurologyConcurrent Quinidine and Phenobarbital in the Treatment of a Patient with 2 KCNT1 Mutations.
Current therapeutic research, clinical and experimentalReport on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
European journal of human genetics : EJHGTwo Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.
Journal of child neurologyNovel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
SeizureQuinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.
Epileptic disorders : international epilepsy journal with videotapeKetogenic Diet in Epilepsy of Infancy With Migrating Focal Seizures.
Pediatric neurologyDifferent types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS).
SeizureQuantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.
EpilepsiaKetogenic diet as a successful early treatment modality for SCN2A mutation.
Brain & developmentLack of response to quinidine in KCNT1-related neonatal epilepsy.
Epilepsia[Clinical phenotypes of TBC1D24 gene related epilepsy].
Zhonghua er ke za zhi = Chinese journal of pediatricsEarly Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsBenign and severe early-life seizures: a round in the first year of life.
Italian journal of pediatricsTwo Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.
Brain & developmentDe Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms.
Child neurology openNeonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.
NeuropediatricsDoes age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature.
SeizureClinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
NeurologyA quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures.
Brain & developmentKCNQ2 encephalopathy: A case due to a de novo deletion.
Brain & developmentThe therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.
Brain & developmentNovel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.
Epilepsia[Research progress in epilepsy of infancy with migrating focal seizures].
Zhonghua er ke za zhi = Chinese journal of pediatricsA de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.
Clinical geneticsGenetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain : a journal of neurologyThe Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype.
NeuroscienceThe KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.
The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry[Clinical features and gene mutations in epilepsy of infancy with migrating focal seizures].
Zhonghua er ke za zhi = Chinese journal of pediatricsThe Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.
Seminars in pediatric neurologyElectroclinical phenotypes and outcomes in TBC1D24-related epilepsy.
Epileptic disorders : international epilepsy journal with videotapeImpaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.
Scientific reportsCurrent understanding and neurobiology of epileptic encephalopathies.
Neurobiology of diseaseLocus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures.
Epilepsy currentsQuinidine in the treatment of KCNT1-positive epilepsies.
Annals of neurologyMutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Nature communicationsSCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
NeurologyDiagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
Journal of child neurologyDe novo KCNT1 mutations in early-onset epileptic encephalopathy.
EpilepsiaEpilepsy of infancy with migrating focal seizures: three patients treated with the ketogenic diet.
Epileptic disorders : international epilepsy journal with videotapeAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Identification of New KCNT1-Epilepsy Drugs by In Silico, Cell, and Drosophila Modeling.
- Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study.
- Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.
- Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review.
- Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
- Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:293181(Orphanet)
- MONDO:0017385(MONDO)
- Epilepsia(PCDT · Ministério da Saúde)
- GARD:12919(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3589156(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
