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Buscar doenças, sintomas, genes...
Síndrome de Landau-Kleffner (LKS)
ORPHA:98818CID-10 · F80.3CID-11 · 8A62.2DOENÇA RARA

Uma forma rara de problema cerebral relacionado à epilepsia (encefalopatia epiléptica) que apresenta uma atividade elétrica anormal e intensa no cérebro (chamada "ponta-onda") durante o sono (EE-SWAS). Essa condição é caracterizada por diversas combinações de dificuldades que a pessoa desenvolve ao longo da vida nas áreas de pensamento, linguagem, comportamento e movimento, sempre associadas a essa ativação elétrica cerebral acentuada durante o sono. Na síndrome de Landau-Kleffner, por exemplo, o que é mais afetado é a capacidade de entender a linguagem falada (linguagem receptiva), levando a uma condição adquirida onde a pessoa não consegue reconhecer ou compreender a fala, mesmo com a audição intacta (agnosia auditiva verbal).

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Introdução

O que você precisa saber de cara

📋

Uma forma rara de problema cerebral relacionado à epilepsia (encefalopatia epiléptica) que apresenta uma atividade elétrica anormal e intensa no cérebro (chamada "ponta-onda") durante o sono (EE-SWAS). Essa condição é caracterizada por diversas combinações de dificuldades que a pessoa desenvolve ao longo da vida nas áreas de pensamento, linguagem, comportamento e movimento, sempre associadas a essa ativação elétrica cerebral acentuada durante o sono. Na síndrome de Landau-Kleffner, por exemplo, o que é mais afetado é a capacidade de entender a linguagem falada (linguagem receptiva), levando a uma condição adquirida onde a pessoa não consegue reconhecer ou compreender a fala, mesmo com a audição intacta (agnosia auditiva verbal).

Publicações científicas
475 artigos
Último publicado: 2026 Mar 3

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.4
Japan
Início
Childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: F80.3
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
22 sintomas
🦴
Ossos e articulações
1 sintomas
🛡️
Imunológico
1 sintomas
🫘
Rins
1 sintomas

+ 19 sintomas em outras categorias

Características mais comuns

90%prev.
Perda da fala
Muito frequente (99-80%)
90%prev.
Afasia
Muito frequente (99-80%)
90%prev.
Convulsão
Muito frequente (99-80%)
90%prev.
Comprometimento da linguagem
Muito frequente (99-80%)
90%prev.
Apraxia da fala
Muito frequente (99-80%)
90%prev.
Anormalidade interictal no EEG
Muito frequente (99-80%)
44sintomas
Muito frequente (8)
Frequente (12)
Ocasional (22)
Muito raro (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 44 características clínicas mais associadas, ordenadas por frequência.

Perda da falaLoss of speech
Muito frequente (99-80%)90%
AfasiaAphasia
Muito frequente (99-80%)90%
ConvulsãoSeizure
Muito frequente (99-80%)90%
Comprometimento da linguagemLanguage impairment
Muito frequente (99-80%)90%
Apraxia da falaSpeech apraxia
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico475PubMed
Últimos 10 anos117publicações
Pico202516 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Unknown.

GRIN2AGlutamate receptor ionotropic, NMDA 2ADisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:20890276, PubMed:23933818, PubMed:23933819, PubMed:23933820, PubMed:24504326, PubMed:26875626, PubMed:26919761, PubMed:28242877, PubMed:36117210, PubMed:38538865, PubMed:8768735). NMDARs participate in synaptic plasticity for learning and memory formation by contributing to the slow phase of excita

LOCALIZAÇÃO

Cell projection, dendritic spineCell membraneSynapsePostsynaptic cell membraneCytoplasmic vesicle membrane

VIAS BIOLÓGICAS (1)
Assembly and cell surface presentation of NMDA receptors
MECANISMO DE DOENÇA

Epilepsy, focal, with speech disorder and with or without impaired intellectual development

An autosomal dominant, highly variable neurologic disorder. Features range from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and intellectual disability to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, intellectual disability and speech dyspraxia, and benign epilepsy with centrotemporal spikes.

EXPRESSÃO TECIDUAL(Tecido-específico)
Brain Frontal Cortex BA9
17.0 TPM
Cérebro - Hemisfério cerebelar
14.8 TPM
Cerebelo
12.7 TPM
Córtex cerebral
11.3 TPM
Brain Anterior cingulate cortex BA24
7.2 TPM
OUTRAS DOENÇAS (5)
early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationdevelopmental and/or epileptic encephalopathy with spike-wave activation in sleeprolandic epilepsy-speech dyspraxia syndromeself-limited epilepsy with centrotemporal spikes
HGNC:4585UniProt:Q12879

Variantes genéticas (ClinVar)

651 variantes patogênicas registradas no ClinVar.

🧬 GRIN2A: NM_001134407.3(GRIN2A):c.2011_2012del (p.Gln671fs) ()
🧬 GRIN2A: NM_001134407.3(GRIN2A):c.3447C>A (p.Asp1149Glu) ()
🧬 GRIN2A: NM_001134407.3(GRIN2A):c.4014dup (p.Lys1339fs) ()
🧬 GRIN2A: NM_001134407.3(GRIN2A):c.3406G>T (p.Val1136Phe) ()
🧬 GRIN2A: NM_001134407.3(GRIN2A):c.1382T>G (p.Ile461Ser) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1,965 variantes classificadas pelo ClinVar.

1572
393
VUS (80.0%)
Benigna (20.0%)
VARIANTES MAIS SIGNIFICATIVAS
GRIN2A: NM_001134407.3(GRIN2A):c.2862C>G (p.Ser954Arg) [Uncertain significance]
GRIN2A: NM_001134407.3(GRIN2A):c.4003A>G (p.Lys1335Glu) [Uncertain significance]
GRIN2A: NM_001134407.3(GRIN2A):c.2653T>A (p.Phe885Ile) [Uncertain significance]
GRIN2A: NM_001134407.3(GRIN2A):c.2851G>A (p.Gly951Arg) [Uncertain significance]
GRIN2A: NM_001134407.3(GRIN2A):c.2870G>T (p.Gly957Val) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de Landau-Kleffner (LKS)

🗺️

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

3 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
107 papers (10 anos)
#1

Diagnostic challenges in Landau-Kleffner syndrome.

BMJ case reports2026 Jan 12

A boy in his early childhood was brought by his parents to the Laboratory of Investigation of Neurological and Genetic Disorders of the School Clinic of the University with a suspicion of Autism Spectrum Disorder (ASD) and hearing loss. The parents' complaint was that their child had language regression, did not respond to auditory stimuli and was presenting ASD behaviours. The parents were searching for information and a possible diagnosis and treatment for their child. Considering the child's history, an electroencephalogram (EEG) and a CT exam, as well as audiological and language assessments, were requested. The audiological assessment indicated normality. As for the language assessment, auditory agnosia and expressive deficits, language fluctuation, restricted sound production and sporadic word use, many of which were unintelligible, were verified. Regarding neurodevelopment, all areas were compromised and symptoms included irritability, motor excitation and impulsivity. There was no score for signs of ASD, although some behaviours could be observed. The child was diagnosed with Landau-Kleffner syndrome (LKS), a rare paediatric neurological disorder characterised by language regression and abnormal EEG activity. Although LKS is a rare condition, there is a need for greater awareness of this syndrome, particularly in light of language regression and suspicion of Acquired Hearing Loss.

#2

Electrophysiological and Quantitative Fingerprints of Landau-Kleffner Syndrome.

Journal of child neurology2026 Mar 03
#3

Evolution into spike-and-wave activation in sleep in patients with self-limited focal epilepsies.

Seizure2026 Feb

Self-limited focal epilepsies of childhood (SeLFE), while predominantly considered benign, are known to potentially manifest with spike-and-wave activation in sleep (SWAS) in a minority of patients METHODS: The medical records of individuals diagnosed with one of the SeLFE syndromes according to the ILAE 2022 diagnostic criteria, who were followed in our center between 1989-2023, were retrospectively analyzed. At least two awake and sleep EEGs were performed during a minimum 2-year follow-up. SWAS is considered as spike and wave discharges occupying ≥50% of NREM sleep with symmetrical or mildly asymmetrical bilateral or unilateral hemispheric distribution. Among 144 patients with SeLFE, 57(39.6%) were diagnosed with self-limited epilepsy with centrotemporal spikes (SeLECTS); 65(45.1%) with self-limited epilepsy with autonomic seizures (SeLEAS); and 22 (15.3%) with childhood occipital visual epilepsy (COVE). The mean age of seizure onset was 7.6, 5.6, and 8.5 years, respectively. Twelve (8.3%) evolved into SWAS (5 from SeLECTS, 6 from SeLEAS, 1 from COVE). Time elapsed between onset of first seizure and evolution into SWAS ranged from 5.2 to 75 months (mean: 26.8±19.8), 6.2-42.8 months (mean: 20.1±14.7 for patients with SeLECTS; 5.2-75.0 months (mean: 32.7±24.5) with SeLEAS, and 25.0 months with COVE). All except two patients had also cognitive or behavioral regression and were diagnosed as epileptic encephalopathy with spike-wave activation in sleep(EE-SWAS) and one patient was diagnosed with Landau-Kleffner syndrome. The most recent definition of ILAE highlights that SeLFEs are no longer recognized as "benign" epilepsies. Even with a low incidence rate, clinicians should always be cautious about the risk of SWAS development in these syndromes.

#4

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

Annals of neurology2025 Nov

Landau-Kleffner syndrome (LKS), is a rare, poorly-understood epileptic encephalopathy with spike-wave activation in sleep associated with mutations in GRIN2A, encoding the N-Methyl-D-Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes. This study aims to improve the understanding and clinical management of LKS. Fifty-two patients with LKS were recruited via one quaternary referral center. Case-notes review delineated clinical features, long-term outcomes, and prognostic factors. Generalized estimating equations were used to determine the longitudinal association among electroencephalogram abnormalities, steroid therapy, and neuropsychological findings. After genetic screening, the impact of identified GRIN2A missense variants on NMDAR function was assessed using homology modeling, cell-surface trafficking assays, and electrophysiology in artificial synapses. Whole exome/genome sequencing was performed on GRIN2A-negative patients to identify novel gene associations. LKS is complex with significant clinical and genetic heterogeneity. Besides speech and language impairment, many patients had other co-morbidities and almost half have long-term disability. Early age at disease onset was associated with worse outcomes. There was no reliable correlation between electroencephalogram findings and developmental scores. Steroid therapy improved language outcomes independently of electroencephalogram findings. GRIN2A mutations were identified in 15.5% of the cohort. Likely pathogenic variants in GABBR2, SCN1A, TRPC1, ERRFI1, CTXN3, IRX6, and IQCA1 were identified in 7 GRIN2A-negative individuals. For LKS, early intervention is important for long-term outcomes. Furthermore, management should not be based solely on electroencephalogram findings. Genetic and functional investigations offer insights into disease pathophysiology and facilitate development of future targeted therapies. ANN NEUROL 2025;98:951-966.

#5

Acquired epileptic aphasia in NMDA encephalitis: a unique electroclinical presentation with pathophysiological considerations.

BMJ case reports2025 Aug 22

A boy in his middle childhood who was premorbidly normal presented with new-onset seizures and progressive auditory aphasia, raising suspicion of Landau-Kleffner Syndrome (LKS). Continuous spike and wave during sleep with a left centrotemporal spike pattern on the electroencephalogram (EEG) supported the preliminary diagnosis. But the febrile episodes after admission and the MRI findings suggestive of autoimmune encephalitis changed the diagnostic considerations. A repeat EEG performed had an extreme delta brush pattern, a finding strongly suggesting the possibility of autoimmune encephalitis. Confirmed with N-methyl-D-aspartate (NMDA) antibody positivity in cerebrospinal fluid, establishing NMDA receptor encephalitis (NMDARE). Despite the different pathways of pathogenesis, there is significant clinical overlap between LKS and NMDARE, including speech regression and seizures in our index case. The child was managed with immunotherapy and seizure control measures, showing significant clinical improvement. This case illustrates the clinical overlap of LKS and NMDARE, also highlighting the critical role of NMDA receptors in speech and language, suggesting the need for early evaluation and prompt immunotherapy in cases with atypical presentations.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC243 artigos no totalmostrando 115

2026

Electrophysiological and Quantitative Fingerprints of Landau-Kleffner Syndrome.

Journal of child neurology
2026

Evolution into spike-and-wave activation in sleep in patients with self-limited focal epilepsies.

Seizure
2026

Diagnostic challenges in Landau-Kleffner syndrome.

BMJ case reports
2025

Diagnostic Challenges and Consideration of Landau-Kleffner Syndrome as a Differential Diagnosis for Language Disorders: A Case Report.

Clinical case reports
2025

Paediatric-tailored modified IC-CoDE approach in non-lesional D/EE-SWAS.

Epilepsy &amp; behavior : E&amp;B
2025

Simultaneous tDCS-rTMS stimulation to regulate the language network and improve language ability in Landau-Kleffner syndrome.

Epilepsia open
2025

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

Annals of neurology
2025

[Landau-Kleffner Syndrome and Continuous Spike-and-Wave During Sleep Syndrome: Comparison of Clinical, Neurophysiological, and Neuropsychological Characteristics].

Revista de neurologia
2025

Acquired epileptic aphasia in NMDA encephalitis: a unique electroclinical presentation with pathophysiological considerations.

BMJ case reports
2025

Landau-Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation.

Case reports in pediatrics
2025

Nuclear neuroimaging in childhood epilepsy syndromes: A systematic review.

Epilepsy &amp; behavior : E&amp;B
2025

Current and Future Treatment Strategies in Developmental and/or Epileptic Encephalopathy With Spike-Wave Activation in Sleep (DEE-SWAS): A Time for Precision Medicine?

Pediatric neurology
2025

Rebuilding the Tower of Babel: The Current Landscape and Emerging Opportunities in DEE-SWAS.

Epilepsy currents
2025

[Landau-Kleffner Syndrome: Current Etiopathogenesis and Management].

Revista de neurologia
2025

Developmental and epileptic encephalopathy with spike-wave activation in sleep: From the 'functional ablation' model to a neurodevelopmental network perspective.

Developmental medicine and child neurology
2025

Focal Epileptic Encephalopathy with Spike-Wave Activation in Sleep: A Case Report of Hemispheric Involvement with Change in Handedness.

The Neurodiagnostic journal
2025

Efficacy of ACTH therapy in children with Landau-Kleffner Syndrome and Autism Spectrum Disorder: A retrospective analysis.

Epilepsy &amp; behavior : E&amp;B
2024

Multiple Subpial Transection for the Treatment of Landau-Kleffner Syndrome-Review of the Literature.

Journal of clinical medicine
2024

How Encephalopathy Impacts Language Ability: A Scoping Review of the Linguistic Abilities of Adults with Developmental and Epileptic Encephalopathy.

Medicina (Kaunas, Lithuania)
2025

Speech loss in children with epilepsy: Not always Landau-Kleffner syndrome.

Developmental medicine and child neurology
2025

Acquired motor speech disorders in childhood epilepsy.

Developmental medicine and child neurology
2024

Landau-Kleffner syndrome (LKS) in an 8-year-old girl: a case report and review of the literature.

Annals of medicine and surgery (2012)
2024

Continuous Spike-Waves during Slow Sleep Today: An Update.

Children (Basel, Switzerland)
2024

Landau-Kleffner Syndrome, Attention-Deficit/Hyperactivity Disorder (ADHD), and Viral/Autoimmune Encephalitis: Challenges in the Diagnosis and Management of a Six-Year-Old Boy.

Cureus
2024

Unmet needs in epileptic encephalopathy with spike-and-wave activation in sleep: A systematic review.

Epilepsy research
2023

Developmental regression in children: Current and future directions.

Cortex; a journal devoted to the study of the nervous system and behavior
2023

Age-Related Changes in Epilepsy Characteristics and Response to Antiepileptic Treatment in Autism Spectrum Disorders.

Journal of personalized medicine
2023

Sleep and respiratory abnormalities in adults with developmental and epileptic encephalopathies using polysomnography and video-EEG monitoring.

Epilepsia open
2023

[Epileptic syndromes associated with focal clonic seizures].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2023

GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.

Epilepsy research
2022

Acquired childhood aphasia as a consequence of COVID-19 and its differential diagnosis from speech-language pathologist perspective: A case study.

Clinical case reports
2023

Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period.

World journal of pediatrics : WJP
2022

Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.

Developmental medicine and child neurology
2022

Koolen-de Vries syndrome associated with continuous spike-wave in sleep.

Epileptic disorders : international epilepsy journal with videotape
2022

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.

Epilepsia
2022

Long-term outcome of developmental and epileptic encephalopathies.

Revue neurologique
2022

Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant.

European journal of medical genetics
2022

The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis.

Journal of neurosurgery. Pediatrics
2022

De novo GRIN2A variants associated with epilepsy and autism and literature review.

Epilepsy &amp; behavior : E&amp;B
2022

What is the effect of pharmacological treatment for continuous spike-wave during slow wave sleep syndrome and Landau-Kleffner syndrome? A Cochrane Review summary with commentary.

Developmental medicine and child neurology
2021

Cerebral dominance in an unusual case of Landau-Kleffner syndrome.

BMJ case reports
2022

Aphasia and a Dual-Stream Language Model in a 4-Year-Old Female with Landau-Kleffner Syndrome.

Neuropediatrics
2021

Cnksr2 Loss in Mice Leads to Increased Neural Activity and Behavioral Phenotypes of Epilepsy-Aphasia Syndrome.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2021

More than one self-limited epilepsy of childhood in the same patient: A multicenter study.

Epilepsy research
2021

Cognitive linguistic Treatment in Landau Kleffner Syndrome: Improvement in Daily Life Communication.

Child neurology open
2021

Clinical profile of patients with rolandic epilepsy at a clinic in rural Maharashtra.

Journal of family medicine and primary care
2021

A follow-up study in children with status epilepticus during sleep: From clinical spectrum to outcome.

Epilepsy &amp; behavior : E&amp;B
2021

Treatment Practices and Outcomes in Continuous Spike and Wave during Slow Wave Sleep: A Multicenter Collaboration.

The Journal of pediatrics
2020

Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.

Frontiers in pediatrics
2020

Pharmacological treatment for continuous spike-wave during slow wave sleep syndrome and Landau-Kleffner Syndrome.

The Cochrane database of systematic reviews
2020

Acquired epileptiform aphasia: 44 years after diagnosis.

Epilepsy &amp; behavior reports
2020

Sleep and Epilepsy Link by Plasticity.

Frontiers in neurology
2021

Early prediction of encephalopathic transformation in children with benign epilepsy with centro-temporal spikes.

Brain &amp; development
2020

Differential Diagnosis of Landau-Kleffner Syndrome Versus Post Encephalitis Syndrome in a 13-year-old Boy With Autism Spectrum Disorder.

Cureus
2020

Music processing deficits in Landau-Kleffner syndrome: Four case studies in adulthood.

Cortex; a journal devoted to the study of the nervous system and behavior
2020

Immunotherapy in GRIN2A-negative Landau-Kleffner Syndrome.

Minerva pediatrica
2020

Methylprednisolone pulse therapy in 31 patients with refractory epilepsy: A single-center retrospective analysis.

Epilepsy &amp; behavior : E&amp;B
2020

[New applications of conventional EEG analysis].

Ideggyogyaszati szemle
2020

Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy.

Epilepsy research
2020

Landau-Kleffner Syndrome: A Diagnostic Challenge.

Cureus
2020

Surgical management of pediatric patients with encephalopathy due to electrical status epilepticus during sleep (ESES).

Epileptic disorders : international epilepsy journal with videotape
2020

Epilepsy syndromes of childhood with sleep activation: Insights from functional imaging.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2019

Inhibition of epileptiform activity by neuropeptide Y in brain tissue from drug-resistant temporal lobe epilepsy patients.

Scientific reports
2019

Development of Ontology for Self-limited Epilepsy with Centrotemporal Spikes and Application of Data Mining Algorithms to Identify New Subtypes.

The Israel Medical Association journal : IMAJ
2019

An Uncommon Presentation of Mucopolysaccharidosis Type IIIb.

Iranian journal of child neurology
2019

Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study.

Epilepsy &amp; behavior : E&amp;B
2019

Social cognition and psychopathology in childhood and adolescence.

Epilepsy &amp; behavior : E&amp;B
2019

Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.

Epileptic disorders : international epilepsy journal with videotape
2019

Encephalopathy related to Status Epilepticus during slow Sleep: from concepts to terminology.

Epileptic disorders : international epilepsy journal with videotape
2019

Epilepsy and Autism Severity: A Study of 6,975 Children.

Autism research : official journal of the International Society for Autism Research
2019

Selected rare paediatric communication neurological disorders.

Journal of applied biomedicine
2019

[Continuous spike-waves during slow-wave sleep: Experience during 20 years].

Anales de pediatria
2019

Perisylvian epileptic network revisited.

Seizure
2019

Regression in children with epilepsy.

Neuroscience and biobehavioral reviews
2019

Addressing sequelae of developmental regression associated with developmental disabilities: A systematic review of behavioral and educational intervention studies.

Neuroscience and biobehavioral reviews
2019

The association of epileptic focus estimated by magnetoencephalography with cognitive function in non-lesional epilepsy with continuous spikes and waves during slow wave sleep (ECSWS) children.

Brain &amp; development
2018

[Speech and language neurodevelopmental disorders in epilepsy: pathophysiologic mechanisms and therapeutic approaches].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2018

Benign epilepsy with centrotemporal spikes - Current concepts of diagnosis and treatment.

Neurologia i neurochirurgia polska
2018

Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language-related NMDA receptor subunit gene Grin2a.

Epilepsia
2018

Toxicological evaluation of convulsant and anticonvulsant drugs in human induced pluripotent stem cell-derived cortical neuronal networks using an MEA system.

Scientific reports
2018

[Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2018

Amantadine: A new treatment for refractory electrical status epilepticus in sleep.

Epilepsy &amp; behavior : E&amp;B
2018

The inhibitory effect of functional lesions on eloquent brain areas: from research bench to operating bed.

The International journal of neuroscience
2018

Epilepsy in patients with autism: links, risks and treatment challenges.

Neuropsychiatric disease and treatment
2018

Language Dysfunction in Pediatric Epilepsy.

The Journal of pediatrics
2018

Treatment of electrical status epilepticus in sleep: Clinical and EEG characteristics and response to 147 treatments in 47 patients.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2018

GRIN2A mutations in epilepsy-aphasia spectrum disorders.

Brain &amp; development
2017

The Clinical Spectrum of Benign Epilepsy with Centro-Temporal Spikes: a Challenge in Categorization and Predictability.

Journal of epilepsy research
2017

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.

PloS one
2016

Is ketogenic diet treatment hepatotoxic for children with intractable epilepsy?

Seizure
2016

Current and Emerging Therapies of Severe Epileptic Encephalopathies.

Seminars in pediatric neurology
2016

The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.

Seminars in pediatric neurology
2016

Pediatric Epileptic Encephalopathies: Pathophysiology and Animal Models.

Seminars in pediatric neurology
2016

Idiopathic focal epilepsies: the "lost tribe".

Epileptic disorders : international epilepsy journal with videotape
2017

Neurocognitive and behavioral profiles of children with Landau-Kleffner syndrome.

Applied neuropsychology. Child
2016

The Impact of 3:1 Ketogenic Diet on Cardiac Repolarization Changes in Children with Refractory Seizures: A Prospective Follow-Up Study.

Neuropediatrics
2016

In response: Comment on outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression.

Epilepsia
2016

Current understanding and neurobiology of epileptic encephalopathies.

Neurobiology of disease
2016

Syndrome of Electrical Status Epilepticus During Sleep: Epileptic Encephalopathy Related to Brain Development.

Pediatric neurology
2016

[Neurodevelopmental disorders in children with epilepsy].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2016

Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.

Epilepsia
2016

Serum inflammatory mediators correlate with disease activity in electrical status epilepticus in sleep (ESES) syndrome.

Epilepsia
2015

Landau-Kleffner syndrome.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
2015

Landau-Kleffner syndrome: an uncommon dealt with case in Southeast Asia.

BMJ case reports
2015

Outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression.

Epilepsia
2015

Treatment of electrical status epilepticus in sleep: A pooled analysis of 575 cases.

Epilepsia
2015

Evidence for normal letter-sound integration, but altered language pathways in a case of recovered Landau-Kleffner Syndrome.

Brain and cognition
2015

Acetazolamide for electrical status epilepticus in slow-wave sleep.

Epilepsia
2015

Landau-Kleffner Syndrome: An Acquired Epileptic Aphasia.

Acta neurologica Taiwanica
2015

[The atypical developments of rolandic epilepsy are predictable complications].

Revista de neurologia
2015

Seizures and epilepsy: an overview for neuroscientists.

Cold Spring Harbor perspectives in medicine
2015

Effectiveness of a hybrid corticosteroid treatment regimen on refractory childhood seizures and a review of other corticosteroid treatments.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2015

Sleep and epilepsy syndromes.

Neuropediatrics
2015

New genes for focal epilepsies with speech and language disorders.

Current neurology and neuroscience reports
2015

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

Annals of neurology
Ver todos os 243 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de Landau-Kleffner (LKS)

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Diagnostic challenges in Landau-Kleffner syndrome.
    BMJ case reports· 2026· PMID 41526063mais citado
  2. Electrophysiological and Quantitative Fingerprints of Landau-Kleffner Syndrome.
    Journal of child neurology· 2026· PMID 41773574mais citado
  3. Evolution into spike-and-wave activation in sleep in patients with self-limited focal epilepsies.
    Seizure· 2026· PMID 41570778mais citado
  4. Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.
    Annals of neurology· 2025· PMID 40944498mais citado
  5. Acquired epileptic aphasia in NMDA encephalitis: a unique electroclinical presentation with pathophysiological considerations.
    BMJ case reports· 2025· PMID 40846503mais citado
  6. Diagnostic Challenges and Consideration of Landau-Kleffner Syndrome as a Differential Diagnosis for Language Disorders: A Case Report.
    Clin Case Rep· 2025· PMID 41425126recente
  7. Paediatric-tailored modified IC-CoDE approach in non-lesional D/EE-SWAS.
    Epilepsy Behav· 2025· PMID 41161200recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:98818(Orphanet)
  2. MONDO:0009509(MONDO)
  3. GARD:6855(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q1636310(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

Síndrome de Landau-Kleffner (LKS)
Compêndio · Raras BR

Síndrome de Landau-Kleffner (LKS)

ORPHA:98818 · MONDO:0009509
Prevalência
1-9 / 1 000 000
Herança
Autosomal dominant, Unknown
CID-10
F80.3 · Afasia adquirida com epilepsia [síndrome de Landau-Kleffner]
CID-11
Início
Childhood
Prevalência
0.4 (Japan)
MedGen
UMLS
C0282512
EuropePMC
Wikidata
Wikipedia
Papers 10a
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