title: Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures.
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.
authors.affiliation: Division of Neurology, Department of Pediatrics, Tawam Hospital, Al-Ain, Abu Dhabi, United Arab Emirates.
authors.forename: Imad Y
authors.initials: IY
authors.lastname: Saadeldin
authors.forename: Reham M
authors.initials: RM
authors.lastname: Milhem
authors.forename: Lihadh
authors.initials: L
authors.lastname: Al-Gazali
authors.forename: Bassam R
authors.initials: BR
authors.lastname: Ali
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D051658:KCNQ2 Potassium Channel / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D012640:Seizures / Q000235:genetics*; D014479:United Arab Emirates; D055815:Young Adult
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human