Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review
نویسندگان
چکیده
منابع مشابه
Early 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 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...
متن کاملInfantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene (c.4025T > C/ =...
متن کاملGene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy
Objective Epileptic encephalopathy (EE) is a heterogeneous condition associated with deteriorations of cognitive, sensory and/or motor functions as a consequence of epileptic activity. The phenomenon is the most common and severe in infancy and early childhood. Genetic-based diagnosis in EE patients is challenging owing to genetic and phenotypic heterogeneity of numerous monogenic disorders and...
متن کاملBiallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
OBJECTIVES Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. ...
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ژورنال
عنوان ژورنال: Journal of Central Nervous System Disease
سال: 2019
ISSN: 1179-5735,1179-5735
DOI: 10.1177/1179573519849938