Long-Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy.

Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism.

Clinical insights into dental care for siblings with Jamuar syndrome: a rare genetic dual case report.

A De Novo Splicing Mutation of STXBP1 in Epileptic Encephalopathy Associated with Hypomyelinating Leukodystrophy.

Molecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy.

Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.

A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy.

ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.

Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.

Type 1 early infantile epileptic encephalopathy: A case report and literature review.

[Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene].

ATN1-related infantile developmental and epileptic encephalopathy responding to Ketogenic diet.

Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.

Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.

Early Surgery for Ohtahara Syndrome Associated With Cortical Dysplasia.

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.

Early Infantile Epileptic Encephalopathy In Asparagine-Linked Glycosylation Thirteen (ALG13) Gene Defect And Dramatic Response With Ketogenic Diet.

Hemispherotomy in an infant with hemimegalencephaly and Ohtahara syndrome.

Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.

[Clinical analysis of early-onset infantile epileptic encephalopathy associated with synonymous variant of the ARHGEF9 gene].

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.

[Epileptic encephalopathies of onset in neonates and infants].

Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy.

SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs.

Generation of a human induced pluripotent stem cell line (CIPi002-A) from an early infantile epileptic encephalopathy patient with a heterozygous mutation in SCN8A.

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.

Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.

Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.

CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report.

A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.

Generation of an isogenic gene-corrected iPSC line (OGHFUi001-A-1) from a type 1 early infantile epileptic encephalopathy (EIEE1) patient with a hemizygous R330L mutation in the ARX gene.

A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.

Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.

[Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].

Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.

The relationship between the characteristics of burst suppression pattern and different etiologies in epilepsy.

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.

Generation of an induced pluripotent stem cell line (OGHFUi001-A) from a type 1 early infantile epileptic encephalopathy with ARX mutation.

Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation.

De novo frameshift variants of HNRNPU in patients with early infantile epileptic encephalopathy: Two case reports and literature review.

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.

A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.

[Clinical manifestation and genetic analysis of a child with early infantile epileptic encephalopathy 42].

The severe epilepsy syndromes of infancy: A population-based study.

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.

Teaching NeuroImages: Ohtahara Syndrome due to Unilateral Perisylvian Polymicrogyria.

Adenosine-to-inosine RNA editing in neurological development and disease.

Metformin, valproic acid, and starvation induce seizures in a patient with partial SLC13A5 deficiency: a case of pharmaco-synergistic heterozygosity.

Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model.

The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.

New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.

Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.

Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy.

Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster.

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathy.

[Early infantile epileptic encephalopathy due to ITPA mutation].

Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients.

A Novel Nonsense Gene Variant Responsible for Early Infantile Epileptic Encephalopathy Type 39: Case Report.

Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Bordetella pertussis DNA detected in a tracheostomized child blood before seroconversion.

The patterns of response of 11 regimens for infantile spasms.

Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

[Atypical presentation of early childhood epileptic encephalopathy associated with the gene KCNT1].

PIGA-related epileptic encephalopathy demonstrating intrafamilial phenotypic heterogeneity.

[FGF12 gene variation in two patients with early infantile epileptic encephalopathy].

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.

Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.

SCN1B-linked early infantile developmental and epileptic encephalopathy.

Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review.

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

De novo NSF mutations cause early infantile epileptic encephalopathy.

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.

Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy.

Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.

[Early infantile epileptic encephalopathy type 14: three cases of epilepsy in infancy with migrating focal seizures due to KCNT1 mutations].

Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel.

X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.

Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.

SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

Neuronal function and dysfunction of CYFIP2: from actin dynamics to early infantile epileptic encephalopathy.

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.

Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23.

SCN1A gain of function in early infantile encephalopathy.

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.

Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations.

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation.

The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy-9 (EIEE9).

Ketogenic diet as a successful early treatment modality for SCN2A mutation.

Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

PRICKLE1-related early onset epileptic encephalopathy.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.

Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation.

Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.

Overnight Video-Polysomnographic Studies in Children with Intractable Epileptic Encephalopathies.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

Causes of mortality in early infantile epileptic encephalopathy: A systematic review.

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.

De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.

Status dystonicus due to missense variant in ARX: Diagnosis and management.

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.

Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

[Recurrent convulsion and pulmonary infection complicated by psychomotor retardation in an infant].

Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy.

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Teaching NeuroImages: Atrophy in epileptic encephalopathy.

Integration of biological/pathophysiological contexts to help clarify genotype-phenotype mismatches in monogenetic diseases. Childhood epilepsies associated with SCN2A as a case study.

Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome.

High-Definition transcranial direct current stimulation in early onset epileptic encephalopathy: a case study.

[Analysis of gene mutation of early onset epileptic spasm with unknown reason].

Mutations of PTPN23 in developmental and epileptic encephalopathy.

A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16.

Practical clues for diagnosing WWOX encephalopathy.

The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.

Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy.

Stress Measured by Allostatic Load in Neurologically Impaired Children: The Importance of Nutritional Status.

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.

KCNQ2 Epileptic Encephalopathy in Early Infancy.

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

Phenotypes and genotypes in individuals with SMC1A variants.

[Epileptic encephalopathies in infancy. How do we treat them? Does the aetiology influence the response to treatment?].

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

Ictal PET in Ohtahara Syndrome With Hemimegalencephaly.

Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome.

[Genetics and treatment of early infantile epileptic encephalopathies].

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.

Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.

Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.

Topiramate in childhood epileptic encephalopathy with continuous spike-waves during sleep: A retrospective study of 21 cases.

Current and Emerging Therapies of Severe Epileptic Encephalopathies.

The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

Epilepsy surgery in pediatric epileptic encephalopathy: when interictal EEG counts the most.

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy.

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.

Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.

Severe CNS involvement in WWOX mutations: Description of five new cases.

De Novo Heterogeneous Mutations in SCN2A and GRIN2A Genes and Seizures With Ictal Vocalizations.

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Two families with novel missense mutations in COL4A1: When diagnosis can be missed.

[Towards elucidating the regulatory roles of CDKL5 in synaptic transmission].

Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.

Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.