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Electroclinical features of epileptic encephalopathy caused by SCN8A mutation
Author(s) -
Takahashi Satoru,
Yamamoto Shiho,
Okayama Akie,
Araki Akiko,
Saitsu Hirotomo,
Matsumoto Naomichi,
Azuma Hiroshi
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12622
Subject(s) - status epilepticus , medicine , electroencephalography , epilepsy , encephalopathy , sodium channel , missense mutation , magnetic resonance imaging , neuroscience , atrophy , pediatrics , anesthesia , mutation , sodium , psychiatry , gene , radiology , psychology , genetics , chemistry , organic chemistry , biology
Voltage‐gated sodium channel N a v 1.6, encoded by the gene SCN8A , plays a crucial role in controlling neuronal excitability. SCN8A mutations that cause increased channel activity are associated with seizures. We describe a patient with epileptic encephalopathy caused by de novo SCN8A mutation (c.5614 C > T , p. A rg1872 T rp). Seizures began 10 days after birth at which time brain magnetic resonance imaging ( MRI ) and electroencephalography ( EEG ) were normal. Seizure recurrence increased with age, leading to the development of frequent status epilepticus from 1 year of age. Seizure type included generalized tonic seizures and focal motor seizures. EEG first showed focal epileptic activity at the age of 4 months, and thereafter showed multifocal spikes. Serial MRI demonstrated brain atrophy, which appeared to progress with seizure aggravation. Clinical features that may give a clue to the diagnosis include normal EEG despite frequent seizures in early infancy and an increase in epileptic activity that occurs with aging.