Mutations in KCNQ2 are associated with severe neonatal epilepsy

Arvid Suls, D. Audenaert, Tine Van Dyck, S. Weckhuysen, J. Baets, D. Hasaerts, Anna Jansen, L. Lagae, A. Jordanova, P. De Jonghe

Onderzoeksoutput: Meeting abstract (Journal)

34 Citaten (Scopus)

Samenvatting

Purpose: Loss-of-function mutations in the voltage-gated potassium
channels Kv7.2 and Kv7.3, encoded by the KCNQ2 and KCNQ3 genes
respectively, are associated with benign familial neonatal seizures
(BFNS), an autosomal dominant epilepsy syndrome of newborns characterized
by a benign epilepsy phenotype and normal psychomotor development.
However, in some BFNS families with a KCNQ2 mutation
patients occasionally have drug-resistant neonatal seizures and mental
retardation.
Method: We analyzed 50 unrelated individuals with severe and intractable
neonatal or early-infantile seizures for mutations in KCNQ2 using
direct sequencing.
Results: In three patients, we identified a de novo KCNQ2 mutation
predicting a missense mutation in Kv7.2 (p.G290D; p.M528V and
p.R542W). None of these mutations has been associated with classical
BFNS. Two patients had onset of tonic or myoclonic seizures at day
3 of life, in one patient tonic seizures started at the age of 4 weeks.
In all of them EEG showed a burst suppression pattern at onset, with
multifocal epileptic discharges later in evolution. One patient developed
a spastic quadriplegia. All had moderate to severe mental retardation.
We found no evidence for an additional second-site diseasecausing
mutation in KCNQ3, KCNE1, KCNE2 and AKAP5 in these
patients.
Conclusion: We hereby confirm that mutations in KCNQ2, which are
usually associated with benign epilepsy, also can be linked to severe and
intractable epilepsy. In both severe and benign epilepsy the onset is in the
neonatal period. Therefore, we postulate that screening of the KCNQ2
gene is useful in all patients with a neonatal onset of epilepsy.
Originele taal-2English
Pagina's (van-tot)141-141
Aantal pagina's1
TijdschriftEpilepsia
Volume51
Nummer van het tijdschrifts4
StatusPublished - 27 jun 2010
Evenement9th European Congress on Epileptology - Rhodes, Greece
Duur: 27 jun 20101 jul 2010

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