Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.
A girl aged 1 year 9 months had recurrent episodes of febrile status epilepticus. She recovered completely after the first three episodes. However, at 9 months she developed acute encephalopathy resulting in severe neurologic sequelae. Diffusion-weighted magnetic resonance imaging revealed diffuse high-intensity signals over the cortex and subcortical white matter in the acute phase and severe diffuse cerebral atrophy in the chronic phase. Mutations were detected in the neuronal voltage-gated sodium channel alpha subunit type 1 (SCN1A) gene. SCN1A sequence analysis revealed a truncation mutation:e x1-c.126Adel (D43fs). Our patient was likely afflicted by severe myoclonic epilepsy in infancy, and the fourth episode of status epilepticus was similar to acute encephalopathy. This report provides further insight into the molecular pathophysiology underlying acute encephalopathy.
Takayanagi
Masaru
M
Division of Pediatrics, Sendai City Hospital, Sendai, Miyagi, Japan. mtakayanagi@me.com
Haginoya
Kazuhiro
K
Umehara
Naoki
N
Kitamura
Taro
T
Numata
Yurika
Y
Wakusawa
Keisuke
K
Hino-Fukuyo
Naomi
N
Mazaki
Emi
E
Yamakawa
Kazuhiro
K
Ohura
Toshihiro
T
Ohtake
Masatoshi
M
D000208:Acute Disease; D001927:Brain Diseases / Q000235:genetics* / Q000503:physiopathology; D001929:Brain Edema / Q000235:genetics / Q000503:physiopathology; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D004684:Leukoencephalitis, Acute Hemorrhagic / Q000235:genetics / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012640:Seizures / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels