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...

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Publicat a:Mol Syndromol
Autors principals: Maljevic, Snezana, Vejzovic, Sabina, Bernhard, Matthias K., Bertsche, Astrid, Weise, Sebastian, Döcker, Miriam, Lerche, Holger, Lemke, Johannes R., Merkenschlager, Andreas, Syrbe, Steffen
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2016
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Original Article
Accés en línia: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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