Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

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 delet...

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Detalhes bibliográficos
Main Authors: Heron, S E, Cox, K, Grinton, B E, Zuberi, S M, Kivity, Sara, Afawi, Z, Straussberg, R, Berkovic, S F, Scheffer, I E, Mulley, J C
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2652819/
https://ncbi.nlm.nih.gov/pubmed/17675531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.051938
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