Correction to: Perampanel treatment in early-onset epileptic encephalopathy with infantile movement disorders associated with a de novo GRIN1 gene mutation: a 3-year follow-up
نویسندگان
چکیده
منابع مشابه
Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy
NMDA receptors (NMDARs), ligand-gated ion channels, play important roles in various neurological disorders, including epilepsy. Here we show the functional analysis of a de novo missense mutation (L812M) in a gene encoding NMDAR subunit GluN2A (GRIN2A). The mutation, identified in a patient with early-onset epileptic encephalopathy and profound developmental delay, is located in the linker regi...
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 کاملEarly-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation
R. Singh , S. Jayapal , S. Goyal , H. Jungbluth , K. Lascelles * Department of Paediatric Neurology, Evelina Children’s Hospital, Guys and St Thomas’ NHS Foundation Trust, United Kingdom Neurophysiology Department, Evelina Children’s Hospital, Guys and St Thomas’ NHS Foundation Trust, United Kingdom Randall Division of Cell and Molecular Biophysics, King’s College London, United Kingdom Departm...
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 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...
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ژورنال
عنوان ژورنال: Neurological Sciences
سال: 2021
ISSN: 1590-1874,1590-3478
DOI: 10.1007/s10072-021-05084-7