A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes

被引：54

作者：

Coppola, G

Castaldo, P

del Giudice, EM

Bellini, G

Galasso, F

Soldovieri, MV

Anzalone, L

Sferro, C

Annuniziato, L

Taglialatela, M

机构：

[1] Univ Naples Federico II, Sch Med, Dept Neurosci, Div Pharmacol, I-80131 Naples, Italy

[2] Univ Messina, I-98100 Messina, Italy

[3] Univ Naples 2, Dept Child Neuropsychiat, Naples, Italy

[4] Univ Naples 2, Dept Pediat, Naples, Italy

来源：

NEUROLOGY | 2003年 / 61卷 / 01期

关键词：

D O I：

10.1212/01.WNL.0000069465.53698.BD

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 years. Electrophysiologic studies showed that mutant K+ channel subunits failed to give rise to functional homomeric channels or exert dominant-negative effects when expressed with KCNQ2/KCNQ3 subunits.

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页码：131 / 134

页数：4

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