SCN8A p.Arg1872Gln mutation in early infantile epileptic encephalopathy type 13: Review and case report
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 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 کاملRecurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy
Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. EIEE caused by mutation of SCN8A is designated EIEE13 (OMIM #614558). Affected children have seizure onset before 18 months of age as well as developmental and cognitive disabilities, ...
متن کاملPathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
OBJECTIVE The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage-gated sodium channel Nav1.6. More than 20% of patients have recurrent mutations in residues Arg1617 or Arg1872. Our goal was to determine the functional effects of these mutations on channel properties. METHODS Clinical exome sequencing wa...
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ژورنال
عنوان ژورنال: Biotechnology & Biotechnological Equipment
سال: 2018
ISSN: 1310-2818,1314-3530
DOI: 10.1080/13102818.2018.1532815