Journal article

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

SE Heron, K Cox, BE Grinton, SM Zuberi, Sara Kivity, Z Afawi, R Straussberg, SF Berkovic, E Scheffer, JC Mulley

JOURNAL OF MEDICAL GENETICS | BMJ PUBLISHING GROUP | Published : 2007

Abstract

BACKGROUND: Benign familial neonatal seizures are most often caused by mutations in the voltage-gated potassium channel subunit gene KCNQ2. More than 60 mutations have been described in BFNS families, approximately half of which lead to protein truncation. The hypothesis of this study was that deletion or duplication of >or=1 exons of KCNQ2 could cause BFNS in cases without coding or splicing mutations. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was used to test a group of 21 unrelated patients with clinical features consistent with either BFNS, benign familial neonatal-infantile seizures or sporadic neonatal seizures, for exonic deletions and duplications. RESULTS: Thr..

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