Corrigendum to ‘Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy’ [Brain Dev. 42(6) (2020) 438–448]
نویسندگان
چکیده
منابع مشابه
Early 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 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 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 کاملGRIN1 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 کاملUnexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching
Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequen...
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ژورنال
عنوان ژورنال: Brain and Development
سال: 2021
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2020.09.006