CareLit · DOI-Nachweis · Aktuelle Neurologie
Genetics and differenzial developmental expression of the Na+ channel gene SCN2A reveal molecular correlates for early-onset (neonatal-infantile) seizures and late-onset episodic ataxia, myoclonus and pain
DOI 10.1055/s-0029-1238449
Bibliografische Angaben
Nachweis in CareLit
Autor:innenY 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
ZeitschriftAktuelle Neurologie
Ausgabe10/2009
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
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.…
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Zitierempfehlung
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 (2009) Genetics and differenzial developmental expression of the Na+ channel gene SCN2A reveal molecular correlates for early-onset (neonatal-infantile) seizures and late-onset episodic ataxia, myoclonus and pain. Aktuelle Neurologie (10). https://doi.org/10.1055/s-0029-1238449
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