T. C. S?-udhof, The molecular machinery of neurotransmitter release (Nobel lecture), Angew Chem Int Ed Engl, vol.53, pp.12696-12717, 2014.

Y. M. Leung, E. P. Kwan, and B. Ng, SNAREing voltage-gated K+ and ATP-sensitive K+ channels: tuning beta-cell excitability with syntaxin-1A andother exocytotic proteins, Endocr Rev, vol.28, pp.653-663, 2007.

N. Regev, N. Degani-katzav, and A. Korngreen, Selective interaction of syntaxin 1A with KCNQ2: possible implications for specific modulation of presynaptic activity, PLoS ONE, vol.4, p.6586, 2009.

A. Etzioni, S. Siloni, and D. Chikvashvilli, Regulation of neuronal Mchannel gating in an isoform-specific manner: functional interplay between calmodulin and syntaxin 1A, J Neurosci, vol.31, pp.14158-14171, 2011.

T. J. Jentsch, Neuronal KCNQ potassium channels: physiology and role in disease, Nat Rev Neurosci, vol.1, pp.21-30, 2000.

C. Yue and Y. Yaari, Axo-somatic and apical dendritic Kv7/M channels differentially regulate the intrinsic excitability of adult rat CA1 pyramidal cells, J Neurophysiol, vol.95, pp.3480-3495, 2006.

M. M. Shah, M. Migliore, and I. Valencia, Functional significance of axonal Kv7 channels in hippocampal pyramidal neurons, Proc Natl Acad Sci, vol.105, pp.7869-7874, 2008.

H. S. Wang, Z. Pan, and W. Shi, KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel, Science, vol.282, pp.1890-1893, 1998.

A. Battefeld, B. T. Tran, and J. Gavrilis, Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons, J Neurosci, vol.34, pp.3719-3732, 2014.

H. Soh, R. Pant, and J. J. Loturco, Conditional deletions of epilepsyassociated KCNQ2 and KCNQ3 channels from cerebral cortex cause differential effects on neuronal excitability, J Neurosci, vol.34, pp.5311-5321, 2014.

S. Weckhuysen, S. Mandelstam, and A. Suls, KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy, Ann Neurol, vol.7, pp.15-25, 2012.

M. Milh, N. Boutry-kryza, and J. Sutera-sardo, Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2, Orphanet J Rare Dis, vol.8, p.80, 2013.
URL : https://hal.archives-ouvertes.fr/inserm-00829466

F. Miceli, M. V. Soldovieri, and N. Joshi, KCNQ2-related disorders

, University of, 2010.

F. Miceli, M. V. Soldovieri, and P. Ambrosino, Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits, Proc Natl Acad Sci, vol.110, pp.4386-4391, 2013.

G. Orhan, M. Bock, and D. Schepers, Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy, Ann Neurol, vol.75, pp.382-394, 2014.

A. Abidi, J. Devaux, and F. Molinari, A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels, Neurobiol Dis, vol.80, pp.80-92, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01664283

H. Stamberger, M. Nikanorova, and M. H. Willemsen, STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy, Neurology, vol.86, pp.954-962, 2016.

H. Saitsu, M. Kato, and T. Mizuguchi, De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy, Nat Genet, vol.40, pp.782-788, 2008.

D. Meglio, C. Lesca, G. Villeneuve, and N. , Epileptic patients with de novo STXBP1 mutations: key clinical features based on 24 cases, Epilepsia, vol.56, pp.1931-1940, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01664313

A. P. Naren, D. J. Nelson, and W. Xie, Regulation of CFTR chloride channels by syntaxin and Munc18 isoforms, Nature, vol.390, pp.302-305, 1997.

J. Qi, K. W. Peters, and C. Liu, Regulation of the amiloride-sensitive epithelial sodium channel by syntaxin1A, J Biol Chem, vol.274, pp.30345-30348, 1999.

S. E. Gladycheva, C. S. Ho, and Y. Y. Lee, Regulation of syntaxin1Amunc18 complex for SNARE pairing in HEK293 cells, J Physiol, vol.558, pp.857-871, 2004.

E. P. Garcia, P. S. Mcpherson, and T. J. Chilcote, rbSec1A and B colocalize with syntaxin 1 and SNAP-25 throughout the axon, but are not in a stable complex with syntaxin, J Cell Biol, vol.129, pp.105-120, 1995.

J. J. Devaux, K. A. Kleopa, and E. C. Cooper, KCNQ2 is a nodal K+ channel, J Neurosci, vol.24, pp.1236-1244, 2004.

Z. Pan, T. Kao, and Z. Horvath, A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon, J Neurosci, vol.26, pp.2599-2613, 2006.

H. B. Rasmussen, C. Frøkjaer-jensen, and C. S. Jensen, Requirement of subunit co-assembly and ankyrin-G for M-channel localization at the axon initial segment, J Cell Sci, vol.120, pp.953-963, 2007.

R. F. Toonen and M. Verhage, Munc18-1 in secretion: lonely Munc joins SNARE team and takes control, Trends Neurosci, vol.30, pp.564-572, 2007.

S. Yamashita, T. Chiyonobu, and M. Yoshida, Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy, Epilepsia, vol.57, pp.81-86, 2016.

M. V. Soldovieri, N. Boutry-kryza, and M. Milh, Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin1A, Hum Mutat, vol.35, pp.356-367, 2014.

O. Fili, I. Michaelevski, and Y. Bledi, Direct interaction of a brain voltage-gated K+ channel with syntaxin 1A: functional impact on channel gating, J Neurosci, vol.21, pp.1964-1974, 2001.

Y. M. Leung, Y. Kang, and X. Gao, Syntaxin 1A binds to the cytoplasmic C terminus of Kv2.1 to regulate channel gating and trafficking, J Biol Chem, vol.278, pp.17532-17538, 2003.

T. Yamakawa, S. Saith, and Y. Li, Interaction of syntaxin 1A with the N-terminus of Kv4.2 modulates channel surface expression and gating, Biochemistry, vol.46, pp.10942-10949, 2007.

M. Margittai, J. Widengren, and E. Schweinberger, Single-molecule fluorescence resonance energy transfer reveals a dynamic equilibrium between closed and open conformations of syntaxin 1, Proc Natl Acad Sci, vol.100, pp.15516-15521, 2003.

Y. M. Leung, Y. Kang, and F. Xia, Open form of syntaxin-1A is a more potent inhibitor than wild-type syntaxin-1A of Kv2.1 channels, Biochem J, vol.387, pp.195-202, 2005.

I. Bezprozvanny, P. Zhong, and R. H. Scheller, Molecular determinants of the functional interaction between syntaxin and N-type Ca 2+ channel gating, Proc Natl Acad Sci, vol.97, pp.13943-13948, 2000.

S. B. Condliffe, M. D. Carattino, and R. A. Frizzell, Syntaxin 1A regulates ENaC via domain-specific interactions, J Biol Chem, vol.278, pp.12796-12804, 2003.

H. Saitsu, M. Kato, and N. Matsumoto, Haploinsufficiency of STXBP1 and Ohtahara syndrome, National Center for Biotechnology Information (US, vol.2012, pp.1-11

C. Patzke, Y. Han, and J. Covy, Analysis of conditional heterozygous STXBP1 mutations in human neurons, J Clin Invest, vol.125, pp.3560-3571, 2015.

R. F. Toonen, K. J. De-vries, and R. Zalm, Munc18-1 stabilizes syntaxin 1, but is not essential for syntaxin 1 targeting and SNARE complex formation, J Neurochem, vol.93, pp.1393-1400, 2005.

R. F. Toonen, K. Wierda, and M. S. Sons, Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size, Proc Natl Acad Sci, vol.103, pp.18332-18337, 2006.