TY - JOUR
T1 - Sodium channel mutations in epilepsy and other neurological disorders
AU - Meisler, Miriam H.
AU - Kearney, Jennifer A.
PY - 2005/8
Y1 - 2005/8
N2 - Since the first mutations of the neuronal sodium channel SCNlA were identified S years ago, more than ISO mutations have been described in patients with epilepsy. Many are sporadic mutations and cause loss of function, which demonstrates haploinsufficiency of SCN1A. Mutations resulting in persistent sodium current are also common. Coding variants of SCN2A, SCN8A, and SCN9A have also been identified in patients with seizures, ataxia, and sensitivity to pain, respectively. The rapid pace of discoveries suggests that sodium channel mutations are significant factors in the etiology of neurological disease and may contribute to psychiatric disorders as well.
AB - Since the first mutations of the neuronal sodium channel SCNlA were identified S years ago, more than ISO mutations have been described in patients with epilepsy. Many are sporadic mutations and cause loss of function, which demonstrates haploinsufficiency of SCN1A. Mutations resulting in persistent sodium current are also common. Coding variants of SCN2A, SCN8A, and SCN9A have also been identified in patients with seizures, ataxia, and sensitivity to pain, respectively. The rapid pace of discoveries suggests that sodium channel mutations are significant factors in the etiology of neurological disease and may contribute to psychiatric disorders as well.
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U2 - 10.1172/JCI25466
DO - 10.1172/JCI25466
M3 - Review article
C2 - 16075041
AN - SCOPUS:23644439941
VL - 115
SP - 2010
EP - 2017
JO - Journal of Clinical Investigation
JF - Journal of Clinical Investigation
SN - 0021-9738
IS - 8
ER -