Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures

Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Syndromol
Prif Awduron: Maljevic, Snezana, Vejzovic, Sabina, Bernhard, Matthias K., Bertsche, Astrid, Weise, Sebastian, Döcker, Miriam, Lerche, Holger, Lemke, Johannes R., Merkenschlager, Andreas, Syrbe, Steffen
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: S. Karger AG 2016
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5073621/
https://ncbi.nlm.nih.gov/pubmed/27781029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000447461
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