Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin‐1A. Issue 3 (13th January 2014)

• Record Type: Journal Article
• Authors: Soldovieri, Maria Virginia; Boutry‐Kryza, Nadia; Milh, Mathieu; Doummar, Diane; Heron, Benedicte; Bourel, Emilie; Ambrosino, Paolo; Miceli, Francesco; De, Michela; Dorison, Nathalie; Auvin, Stephane; Echenne, Bernard; Oertel, Julie; Riquet, Audrey; Lambert, Laetitia; Gerard, Marion; Roubergue, Anne; Calender, Alain; Mignot, Cyril; Taglialatela, Maurizio; Lesca, Gaetan
• Is Part Of: Human mutation. Volume 35:Issue 3(2014:Mar.)
• Page Start: 356
• Page End: 367
• Publication Date: 2014-01-13
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22500
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22500-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Mutations in <italic>KCNQ2</italic> and <italic>KCNQ3</italic>, encoding for Kv7.2 and KV7.3 voltage‐dependent K+ channel subunits, respectively, cause neonatal epilepsies with wide phenotypic heterogeneity.</p> <p>We describe data from 17 patients/families with the diagnosis of benign familial neonatal epilepsy and with a mutation in <italic>KCNQ2</italic> (<italic>n</italic> = 16) or <italic>KCNQ3</italic> (<italic>n</italic> = 1). Electrophysiological studies in mammalian cells revealed that newly found substitutions displayed reduced current densities. In addition, some mutations impair channel regulation by syntaxin‐1‐A, highlighting a novel pathogenic mechanism for KCNQ2‐related epilepsies. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg4stk8vkt" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>