Functional and subcellular consequences of a recurrent KCNQ2 mutation associated to early epileptic encephalopathy: A moderate effect on M current but a strong impact on Kv7 channels neuronal targeting, Neurobiol Dis, 2015. ,
A Potassium Channel Mutation in Neonatal Human Epilepsy, Science, vol.279, issue.5349, pp.403-406, 1998. ,
DOI : 10.1126/science.279.5349.403
Neural KCNQ (Kv7) channels, British Journal of Pharmacology, vol.37, issue.8, pp.1185-1195, 2009. ,
DOI : 10.1113/jphysiol.1995.sp020732
URL : https://hal.archives-ouvertes.fr/hal-00013264
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel, Proceedings of the National Academy of Sciences, vol.46, issue.3, pp.12272-12277, 2001. ,
DOI : 10.1002/1531-8249(199909)46:3<305::AID-ANA5>3.0.CO;2-5
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2, Epilepsy Research, vol.54, issue.1, pp.21-27, 2003. ,
DOI : 10.1016/S0920-1211(03)00037-8
mutation, Epilepsia, vol.71, issue.7, pp.1282-1287, 2013. ,
DOI : 10.1002/ana.22644
URL : https://hal.archives-ouvertes.fr/hal-00018575
7.2 potassium channel subunits, Proceedings of the National Academy of Sciences, vol.102, issue.6, pp.4386-4391, 2008. ,
DOI : 10.1093/nar/gkg520
URL : https://hal.archives-ouvertes.fr/in2p3-00553501
Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion, Pediatrics International, vol.63, issue.2, pp.167-171, 2008. ,
DOI : 10.1212/01.WNL.0000145629.94338.89
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns, Nature Genetics, vol.36, issue.1, pp.25-29, 1998. ,
DOI : 10.1038/ng1094-136
Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A, Human Mutation, vol.54, issue.3, pp.356-367 ,
DOI : 10.1111/epi.12089
Benign familial neonatal convulsions: Always benign?, Epilepsy Research, vol.73, issue.3, pp.245-249, 2007. ,
DOI : 10.1016/j.eplepsyres.2006.10.010
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy, Annals of Neurology, vol.25, issue.1, pp.15-25, 2012. ,
DOI : 10.1523/JNEUROSCI.0128-05.2005