Genetics and differenzial developmental expression of the Na+ channel gene SCN2A reveal molecular correlates for early-onset (neonatal-infantile) seizures and late-onset episodic…
Y Liao, L Deprez, AK Anttonen, S Maljevic, L Claes, D Hristova, A Jordanova, S Ala-Mello, E Liukkonen, E Gaily, A Bellan-Koch, D Blazevic, S Schubert, EA Thomas, S Petrou, VE Ahonen, P De Joghe, AE Lehesejoki, H Lerche · Aktuelle Neurologie · 2009 · Heft 10
Bibliografische Angaben
Zusammenfassung
Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism which can explain that epileptic spells in benign familial neonatal-infantile seizures (BFNIS) occur almost exclusively during the first days to months of life. BFNIS is caused by mutations in the gene SCN2A encoding the voltage-gated Na+ channel NaV1.2. We describe three novel SCN2A mutations causing BFNIS in three independent families, two of them occurring de novo, and their functional consequences in a neonatal and an adult splice variant of th…
