Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy
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چکیده
منابع مشابه
GRIN1 Mutations in Early-Onset Epileptic Encephalopathy.
Investigators from Yokohama City University and other medical centers in Israel and Japan reported mutations on N-methyl-D-aspartate (NMDA) receptors subunit GRIN1 (GluN1) identified in patients with nonsyndromic intellectual disability and early-onset epileptic encephalopathy.
متن کاملEarly-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.
Ohtahara syndrome and early myoclonic encephalopathy are the earliest presenting of the epileptic encephalopathies. They are typically distinguished from each other according to specific clinical and etiologic criteria. Nonetheless, considerable overlap exists between the two syndromes in terms of clinical presentation, prognosis, and electroencephalographic signature. Newer understandings of u...
متن کاملEarly infantile epileptic encephalopathy
Key-words Disease name / synonyms Definition / diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counselling Treatment Unresolved questions References Abstract Early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome is the earliest form of agedependent encephalopathies, which include also West syndrome and Lennox-Gastau...
متن کاملEpileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
PURPOSE STXBP1 (MUNC18-1) mutations have been associated with various types of epilepsies, mostly beginning early in life. To refine the phenotype associated with STXBP1 aberrations in early onset epileptic syndromes, we studied this gene in a cohort of patients with early onset epileptic encephalopathy. METHODS STXBP1 was screened in a multicenter cohort of 52 patients with early onset epile...
متن کاملEarly Infantile Epileptic Encephalopathy Panel
12/17 Clinical Features and Molecular Genetics: Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is a severe form of epilepsy characterized by frequent tonic spasms with onset in the first months of life. EEG reveals suppression-burst patterns, characterized by highvoltage bursts alternating with almost flat suppression phases. Seizures are medically intractable...
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ژورنال
عنوان ژورنال: Epilepsia Open
سال: 2018
ISSN: 2470-9239
DOI: 10.1002/epi4.12263