TY - JOUR
T1 - Acute encephalopathy with a novel point mutation in the SCN2A gene
AU - Kobayashi, Katsuhiro
AU - Ohzono, Hiroki
AU - Shinohara, Mayu
AU - Saitoh, Makiko
AU - Ohmori, Iori
AU - Ohtsuka, Yoko
AU - Mizuguchi, Masashi
N1 - Funding Information:
We thank Dr. Keiko Tachibana (Department of Pediatrics, Tamano City Hospital) for providing clinical data of the patient during the acute phase. Supported in part by a Grant-in-Aid for Scientific Research from the Japan Society for the Promotion of Science (No. 20390293 ), by a Grant-in-Aid for research (H23-Nanji-Ippan-78) from the Ministry of Health, Labour and Welfare, Japan .
PY - 2012/11
Y1 - 2012/11
N2 - Mutations of the neuronal voltage-gated sodium channel alpha subunit type II (SCN2A) cause various epileptic syndromes, but have never been reported in association with acute encephalopathy. To validate the involvement of SCN2A mutations in acute encephalopathy, we screened 25 patients and found a novel missense mutation (Met1128Thr) in a patient with acute encephalitis with refractory, repetitive partial seizures (AERRPS). This finding suggests that SCN2A mutation is a predisposing factor for acute encephalopathy.
AB - Mutations of the neuronal voltage-gated sodium channel alpha subunit type II (SCN2A) cause various epileptic syndromes, but have never been reported in association with acute encephalopathy. To validate the involvement of SCN2A mutations in acute encephalopathy, we screened 25 patients and found a novel missense mutation (Met1128Thr) in a patient with acute encephalitis with refractory, repetitive partial seizures (AERRPS). This finding suggests that SCN2A mutation is a predisposing factor for acute encephalopathy.
KW - Acute encephalopathy
KW - Missense mutation
KW - Voltage-gated sodium channel
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U2 - 10.1016/j.eplepsyres.2012.04.016
DO - 10.1016/j.eplepsyres.2012.04.016
M3 - Article
C2 - 22591750
AN - SCOPUS:84868304335
VL - 102
SP - 109
EP - 112
JO - Journal of Epilepsy
JF - Journal of Epilepsy
SN - 0920-1211
IS - 1-2
ER -