Channelpedia

PubMed 23290024


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ2 , Kv7.2



Title: Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures.

Authors: Imad Y Saadeldin, Reham M Milhem, Lihadh Al-Gazali, Bassam R Ali

Journal, date & volume: Pediatr. Neurol., 2013 Jan , 48, 63-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23290024


Abstract
Mutations in voltage-gated potassium channel Kv7.2 are responsible for benign familial neonatal seizures type 1, a rare monogenic autosomal dominant inherited epilepsy syndrome. We describe a novel mutation (c.1126_1127delA) in exon 9 of KCNQ2, the gene encoding for the Kv7.2 channel, in a large Emirati family with benign familial neonatal seizures type 1. The mutation leads to a frameshift at amino acid position 376, triggering loss of function and haploinsufficiency. Patients with this mutation manifest repeated clonic seizures with normal interictal electroencephalograms and favorable prognoses. Signs occur within the first days of age, lingering well into puberty. KCNQ2 mutation screening, alongside genetic counseling, should be included in diagnostic evaluations of neonatal epileptic patients, potentially sparing the need for unnecessary investigations and treatment. To our knowledge, this report is the first of a KCNQ2 mutation in an Emirati family with benign familial neonatal seizures type 1.