A. Abidi, J. J. Devaux, F. Molinari, G. Alcaraz, F. Michon et al., 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

P. Ambrosino, M. V. Soldovieri, T. Bast, P. D. Turnpenny, S. Uhrig et al., De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy, Ann. Neurol, vol.83, pp.1198-1204, 2018.

G. Barcia, M. R. Fleming, A. Deligniere, V. R. Gazula, M. R. Brown et al., De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy, Nat. Genet, vol.44, pp.1255-1259, 2012.
URL : https://hal.archives-ouvertes.fr/hal-02090149

J. K. Bedoyan, R. A. Kumar, J. Sudi, F. Silverstein, T. Ackley et al., Duplication 16p11.2 in a child with infantile seizure disorder, Am. J. Med. Genet, vol.152, pp.1567-1574, 2010.

A. P. Berg, N. Sen, and D. A. Bayliss, TrpC3/C7 and Slo2.1 are molecular targets for metabotropic glutamate receptor signaling in rat striatal cholinergic interneurons, J. Neurosci, vol.27, pp.8845-8856, 2007.

A. Bhattacharjee, W. J. Joiner, M. Wu, Y. Yang, F. J. Sigworth et al., Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP, J. Neurosci, vol.23, pp.11681-11691, 2003.

A. Bhattacharjee, C. A. Von-hehn, X. Mei, and L. K. Kaczmarek, Localization of the Na + -activated K + channel slick in the rat central nervous system, J. Comp. Neurol, vol.484, pp.80-92, 2005.

G. Budelli, T. A. Hage, A. Wei, P. Rojas, Y. J. Jong et al., Na + -activated K + channels express a large delayed outward current in neurons during normal physiology, Nat. Neurosci, vol.12, pp.745-750, 2009.

D. Carranza-rojo, L. Hamiwka, J. M. Mcmahon, L. M. Dibbens, T. Arsov et al., De novo SCN1A mutations in migrating partial seizures of infancy, Neurology, vol.77, pp.380-383, 2011.

H. Chen, J. Kronengold, Y. Yan, V. Gazula, M. R. Brown et al., The N-terminal domain of slack determines the formation and trafficking of slick/slack heteromeric sodium-activated potassium channels, J. Neurosci, vol.29, pp.5654-5665, 2009.

G. Coppola, P. Plouin, C. Chiron, O. Robain, and O. Dulac, Migrating partial seizures in infancy: a malignant disorder with developmental arrest, Annu. Rev. Physiol, vol.36, pp.19-46, 1995.

J. Devaux, A. Abidi, A. Roubertie, F. Molinari, H. Becq et al., , 2016.

A. Kv7, 2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity, Epilepsia, vol.57, pp.87-93

M. A. El-brolosy, Z. Kontarakis, A. Rossi, C. Kuenne, S. Günther et al., Genetic compensation triggered by mutant mRNA degradation, Nature, vol.568, pp.193-197, 2019.

A. Etxeberria, I. Santana-castro, M. P. Regalado, P. Aivar, and A. Villarroel, Three mechanisms underlie KCNQ2/3 heteromeric potassium M-channel potentiation, J. Neurosci, vol.24, pp.9146-9152, 2004.

K. M. Evely, K. D. Pryce, and A. Bhattacharjee, The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype, Neuroscience, vol.351, pp.65-70, 2017.

Z. L. Fuller, J. J. Berg, H. Mostafavi, G. Sella, and M. Przeworski, Measuring intolerance to mutation in human genetics, Nat. Genet, vol.51, pp.772-776, 2019.

P. Garg and M. C. Sanguinetti, Intracellular ATP does not inhibit Slo2.1 K + channels, Physiol. Rep, vol.2, p.12118, 2014.

S. Gururaj, E. E. Palmer, G. D. Sheehan, T. Kandula, R. Macintosh et al., A de novo mutation in the sodium-activated potassium channel KCNT2 alters ion selectivity and causes epileptic encephalopathy, Cell Rep, vol.21, pp.926-933, 2017.

T. A. Hage and L. Salkoff, Sodium-activated potassium channels are functionally coupled to persistent sodium currents, J. Neurosci, vol.32, pp.2714-2721, 2012.

K. B. Howell, J. M. Mcmahon, G. L. Carvill, D. Tambunan, M. T. Mackay et al., SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures, Neurology, vol.85, pp.958-966, 2015.

A. Ishii, M. Shioda, A. Okumura, H. Kidokoro, M. Sakauchi et al., A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy, Gene, vol.531, pp.467-471, 2013.

L. K. Kaczmarek, Slack, slick, and sodium-activated potassium channels. ISRN Neurosci, p.354262, 2013.

L. K. Kaczmarek, R. W. Aldrich, K. G. Chandy, S. Grissmer, A. D. Wei et al., International union of basic and clinical pharmacology. C. Nomenclature and properties of calcium-activated and sodium-activated potassium channels, Pharmacol. Rev, vol.69, pp.1-11, 2016.

U. Kim and D. A. Mccormick, Functional and ionic properties of a slow afterhyperpolarization in ferret perigeniculate neurons in vitro, J. Neurophysiol, vol.80, pp.1222-1235, 1998.

T. Klassen, C. Davis, A. Goldman, D. Burgess, T. Chen et al., Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy, Cell, vol.145, pp.1036-1048, 2011.

P. Kumar, D. Kumar, S. K. Jha, N. K. Jha, and R. K. Ambasta, Ion Channels in Neurological Disorders. 1st Edn, 2016.

A. Mctague, R. Appleton, S. Avula, H. Cross, M. D. King et al., Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum, Brain, vol.136, pp.1578-1591, 2013.

F. Miceli, M. V. Soldovieri, P. Ambrosino, V. Barrese, M. Migliore et al., 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. U S A, vol.110, pp.4386-4391, 2013.

F. Miceli, M. V. Soldovieri, P. Ambrosino, M. De-maria, M. Migliore et al., Early-onset epileptic encephalopathy caused by gainof-function mutations in the voltage sensor of K v 7.2 and K v 7.3 potassium channel subunits, J. Neurosci, vol.35, pp.3782-3793, 2015.

M. Milh, A. Falace, N. Villeneuve, N. Vanni, P. Cacciagli et al., Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy, Hum. Mutat, vol.34, pp.869-872, 2013.
URL : https://hal.archives-ouvertes.fr/hal-01668674

S. B. Mulkey, B. Ben-zeev, J. Nicolai, J. L. Carroll, S. Grønborg et al., Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H, Epilepsia, vol.58, pp.436-445, 2017.

Z. Niday and A. V. Tzingounis, Potassium channel gain of function in epilepsy: an unresolved paradox, Neuroscientist, vol.24, pp.368-380, 2018.

C. Ohba, M. Kato, S. Takahashi, T. Lerman-sagie, D. Lev et al., Early onset epileptic encephalopathy caused by de novo SCN8A mutations, Epilepsia, vol.55, pp.994-1000, 2014.

G. Orhan, M. Bock, D. Schepers, E. I. Ilina, S. N. Reichel et al., Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy, Ann. Neurol, vol.75, pp.382-394, 2014.

A. Poduri, S. S. Chopra, E. G. Neilan, P. C. Elhosary, M. A. Kurian et al., Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy, Epilepsia, vol.53, pp.146-150, 2012.

A. Poduri, E. L. Heinzen, V. Chitsazzadeh, F. M. Lasorsa, P. C. Elhosary et al., SLC25A22 is a novel gene for migrating partial seizures in infancy, Ann. Neurol, vol.74, pp.873-882, 2013.

S. Richards, N. Aziz, S. Bale, D. Bick, S. Das et al., Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet. Med, vol.17, pp.405-424, 2015.

S. Rizzi, H. G. Knaus, and C. Schwarzer, Differential distribution of the sodium-activated potassium channels slick and slack in mouse brain, J. Comp. Neurol, vol.524, pp.2093-2116, 2016.

F. Rizzo, P. Ambrosino, A. Guacci, M. Chetta, G. Marchese et al., Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy, Mol. Cell. Neurosci, vol.72, pp.54-63, 2016.

L. Salkoff, A. Butler, G. Ferreira, C. Santi, W. et al., High-conductance potassium channels of the SLO family, Nat. Rev. Neurosci, vol.7, pp.921-931, 2006.

C. M. Santi, G. Ferreira, B. Yang, V. R. Gazula, A. Butler et al., Opposite regulation of slick and slack K + channels by neuromodulators, J. Neurosci, vol.26, pp.5059-5068, 2006.

C. E. Stafstrom, P. C. Schwindt, M. C. Chubb, and W. E. Crill, Properties of persistent sodium conductance and calcium conductance of layer V neurons from cat sensorimotor cortex in vitro, J. Neurophysiol, vol.53, pp.153-170, 1985.

T. Stödberg, A. Mctague, A. J. Ruiz, H. Hirata, J. Zhen et al., Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures, Nat. Commun, vol.6, p.8038, 2015.

M. A. Tejada, N. Hashem, K. Calloe, and D. A. Klaerke, Heteromeric Slick/Slack K + channels show graded sensitivity to cell volume changes, PLoS One, vol.12, p.169914, 2017.

S. J. Thomson, A. Hansen, and M. C. Sanguinetti, Identification of the intracellular Na + sensor in Slo2.1 potassium channels, J. Biol. Chem, vol.290, pp.14528-14535, 2015.

A. Vanderver, C. Simons, J. L. Schmidt, P. L. Pearl, M. Bloom et al., Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy, Pediatr. Neurol, vol.50, pp.112-114, 2014.

C. Villa and R. Combi, Potassium channels and human epileptic phenotypes: an updated overview, Front. Cell. Neurosci, vol.10, p.81, 2016.

J. L. Wang, L. Cao, X. H. Li, Z. M. Hu, J. D. Li et al., Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias, Brain, vol.134, pp.3493-3501, 2011.