benign familial neonatal epilepsy

Literature (3)

Literature for DOID 14777: benign familial neonatal epilepsy

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy., Wuttke TV,Penzien J,Fauler M,Seebohm G,Lehmann-Horn F,Lerche H,Jurkat-Rott K, J Physiol. January 15, 2008; 586(2):0022-3751.
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures., Maljevic S,Vejzovic S,Bernhard MK,Bertsche A,Weise S,Döcker M,Lerche H,Lemke JR,Merkenschlager A,Syrbe S, Mol Syndromol. September 1, 2016; 7(4):1661-8769.
Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I., Maghera J,Li J,Lamothe SM,Braun M,Appendino JP,Au PYB,Kurata HT, Epilepsia Open. December 1, 2020; 5(4):2470-9239.

Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures., Maljevic S,Vejzovic S,Bernhard MK,Bertsche A,Weise S,Döcker M,Lerche H,Lemke JR,Merkenschlager A,Syrbe S, Mol Syndromol. September 1, 2016; 7(4):1661-8769.

Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I., Maghera J,Li J,Lamothe SM,Braun M,Appendino JP,Au PYB,Kurata HT, Epilepsia Open. December 1, 2020; 5(4):2470-9239.