E. Abdelnour, W. Gallentine, M. Mcdonald, M. Sachdev, Y. Jiang et al., Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature, Seizure, vol.55, pp.1-3, 2018.

N. Bahi-buisson, A. Kaminska, N. Boddaert, M. Rio, A. Afenjar et al., The three stages of epilepsy in patients with CDKL5 mutations, Epilepsia, vol.49, pp.1027-1037, 2008.
URL : https://hal.archives-ouvertes.fr/hal-00652527

G. Barcia, M. R. Fleming, A. Deligniere, V. 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.1255-1264, 2012.

F. M. Baumer and M. Sheehan, Quinidine-associated skin discoloration in KCNT1 -associated pediatric epilepsy, Neurology, vol.89, pp.2212-2212, 2017.

D. Bearden, A. Strong, J. Ehnot, M. Digiovine, D. Dlugos et al., Targeted treatment of migrating partial seizures of infancy with quinidine, Ann Neurol, vol.76, pp.457-61, 2014.

J. Beel, B. Gipp, S. Langer, and M. Genzmehr, Docear: an academic literature suite for searching, organizing and creating academic literature, Proceeding of the 11th annual international ACM/IEEE joint conference on Digital libraries -JCDL '11

P. F. Chong, R. Nakamura, H. Saitsu, N. Matsumoto, and R. Kira, Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation, Ann Neurol, 2016.

G. Coppola, Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology, Epilepsia, vol.50, issue.5, pp.49-51, 2009.

G. Coppola, P. Plouin, C. Chiron, O. Robain, and O. Dulac, Migrating partial seizures in infancy: a malignant disorder with developmental arrest, Epilepsia, vol.36, pp.1017-1024, 1995.

M. S. Costa, J. Born, J. C. Claussen, and T. Martinetz, Modeling the effect of sleep regulation on a neural mass model, J Comput Neurosci, vol.41, pp.15-28, 2016.

R. Dilena, J. C. Difrancesco, M. V. Soldovieri, A. Giacobbe, P. Ambrosino et al., Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy, Neurotherapeutics, vol.15, pp.1112-1126, 2018.

S. N. Ehaideb, G. T. Decker, P. Smith, D. Davis, and B. Zhang, Novel Compensatory Mechanisms Enable the Mutant KCNT1 Channels to Induce Seizures, 2017.

L. Fasulo, S. Saucedo, L. Cáceres, S. Solis, and R. Caraballo, Migrating focal seizures during infancy: a case report and pathologic study, Pediatr Neurol, vol.46, pp.182-186, 2012.

M. P. Fitzgerald, M. Fiannacca, D. M. Smith, T. S. Gertler, B. Gunning et al.,

, Treatment Responsiveness in KCNT1-Related Epilepsy, Neurotherapeutics, vol.2019, pp.1-10

E. R. Freilich, J. M. Jones, W. D. Gaillard, J. Conry, T. N. Tsuchida et al., Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy, Arch Neurol, vol.68, pp.665-671, 2011.

H. J. Gilhuis, J. Schieving, and M. J. Zwarts, Malignant migrating partial seizures in a 4-month-old boy, Epileptic Disord, 2011.

C. Gitiaux, N. Chemaly, S. Quijano-roy, C. Barnerias, I. Desguerre et al.,

, Motor neuropathy contributes to crouching in patients with Dravet syndrome, Neurology, vol.87, pp.277-281, 2016.

V. Gross-tsur, B. Ben-zeev, and R. S. Shalev, Malignant migrating partial seizures in infancy, Pediatr Neurol, vol.31, pp.287-90, 2004.

A. Hahn, M. Heckel, and B. A. Neubauer, Pronounced microcephaly in a patient with malignant migrating partial seizures in infancy, Epileptic Disord, vol.9, pp.94-97, 2007.

S. E. Heron, K. R. Smith, M. Bahlo, L. Nobili, E. Kahana et al., Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy, Nat Genet, vol.44, pp.1188-90, 2012.

G. Hmaimess, H. Kadhim, M. Nassogne, C. Bonnier, and K. Van-rijckevorsel,

, Levetiracetam in a neonate with malignant migrating partial seizures, Pediatr Neurol, vol.34, pp.55-64, 2006.

K. B. Howell, J. M. Mcmahon, G. L. Carvill, D. Tambunan, M. T. Mackay et al.,

V. Casero, SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures, Neurology, vol.85, pp.958-66, 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.

N. Jee, A. Ko, S. H. Kim, J. S. Lee, H. D. Kim et al., Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation, J korean child Neurol Soc, vol.25, pp.169-173, 2017.

J. Juang, T. Lu, L. Lai, C. Ho, Y. Liu et al.,

, Sequencing of Ion Channel Genes identifies de novo mutations in Patients with Non-Familial Brugada Syndrome, Sci Rep, vol.4, p.6733, 2015.

M. Kameyama, M. Kakei, R. Sato, T. Shibasaki, H. Matsuda et al., Intracellular Na+ activates a K+ channel in mammalian cardiac cells, Nature, vol.309, pp.354-360, 1984.

G. Katzos, P. Triantafyllou, N. Gombakis, C. Sofocleous, and D. I. Zafeiriou, Thelarche variant in a girl with Angelman syndrome, Brain Dev, vol.26, pp.339-341, 2004.

Y. Kawasaki, I. Kuki, E. Ehara, Y. Murakami, S. Okazaki et al., Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries, J Pediatr, 2017.

G. E. Kim and L. K. Kaczmarek, Emerging role of the KCNT1 Slack channel in intellectual disability, Front Cell Neurosci, vol.8, p.209, 2014.

C. De-kovel, E. H. Brilstra, M. Van-kempen, R. Van't-slot, I. J. Nijman et al., Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients, Mol Genet Genomic Med, vol.4, pp.568-580, 2016.

M. Kuchenbuch, P. Benquet, A. Kaminska, A. Roubertie, E. Carme et al., Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures, Epilepsia, 2018.
URL : https://hal.archives-ouvertes.fr/hal-01975568

B. C. Lim, H. Hwang, H. Kim, J. H. Chae, J. Choi et al., Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?, Epilepsy Res, vol.109, pp.34-39, 2015.

C. X. Lim, M. G. Ricos, L. M. Dibbens, and S. E. Heron, KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects, J Med Genet, vol.53, pp.217-242, 2016.

P. Madaan, P. Jauhari, A. Gupta, B. Chakrabarty, and S. Gulati,

E. Marsh, S. E. Melamed, T. Barron, and R. R. Clancy, Migrating partial seizures in infancy: Expanding the phenotype of a rare seizure syndrome, Epilepsia, vol.46, pp.568-572, 2005.

H. C. Martin, G. E. Kim, A. T. Pagnamenta, Y. Murakami, G. L. Carvill et al.,

, Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis, Hum Mol Genet, vol.23, pp.3200-3211, 2014.

A. Mctague, R. Appleton, S. Avula, J. 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.1578-91, 2013.

A. Mctague, U. Nair, S. Malhotra, E. Meyer, N. Trump et al., Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy, Neurology, vol.90, pp.55-66, 2018.

D. Merdariu, C. Delanoë, N. Mahfoufi, V. Bellavoine, and S. Auvin, Malignant migrating partial seizures of infancy controlled by stiripentol and clonazepam, Brain Dev, vol.35, pp.177-80, 2013.

M. A. Mikati, Y. Jiang, M. Carboni, V. Shashi, S. Petrovski et al., Quinidine in the treatment of KCNT1 positive epilepsies, Ann Neurol, 2015.

M. A. Mikati, Y. H. Jiang, M. Carboni, V. Shashi, S. Petrovski et al.,

, Quinidine in the treatment of KCNT1-positive epilepsies, Ann Neurol, vol.78, pp.995-999, 2015.

M. Milh, A. Falace, N. Villeneuve, N. Vanni, P. Cacciagli et al.,

R. S. Møller, S. E. Heron, L. Larsen, C. X. Lim, M. G. Ricos et al., Mutations in KCNT1 cause a spectrum of focal epilepsies, Epilepsia, vol.56, pp.114-120, 2015.

T. Mori, K. Imai, T. Oboshi, Y. Fujiwara, S. Takeshita et al., Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy, Brain Dev, vol.38, pp.601-604, 2016.

A. L. Numis, U. Nair, A. N. Datta, T. T. Sands, M. S. Oldham et al., Lack of response to quinidine in KCNT1-related neonatal epilepsy, Epilepsia, vol.59, pp.1889-1898, 2018.

C. Ohba, M. Kato, N. Takahashi, H. Osaka, T. Shiihara et al., De novo KCNT1 mutations in early-onset epileptic encephalopathy, Epilepsia, vol.56, pp.121-128, 2015.

S. Ohtahara and Y. Yamatogi, Ohtahara syndrome: With special reference to its developmental aspects for differentiating from early myoclonic encephalopathy, Epilepsy Res, vol.70, pp.58-67, 2006.

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.

V. Saletti, L. Canafoglia, P. Cambiaso, S. Russo, M. Marchi et al., A CDKL5 mutated child with precocious puberty, Am J Med Genet Part A, vol.149, pp.1046-1051, 2009.

O. Selioutski, L. E. Seltzer, J. Burchfiel, A. R. Paciorkowski, and G. Erba, Characteristic Features of the Interictal EEG Background in 2 Patients with Malignant Migrating Partial Epilepsy in Infancy, J Clin Neurophysiol, vol.32, pp.23-29, 2015.

S. U. Siddiqi, D. C. Van-dyke, P. Donohoue, and D. M. Mcbrien, Premature sexual individuals with neurodevelopmental disabilities, Dev Med Child Neurol, vol.41, pp.392-395, 1999.

S. Svalheim, E. Taubøll, T. Bjørnenak, L. S. Røste, T. Mørland et al., Onset of epilepsy and menarche-Is there any relationship?, Seizure, vol.15, pp.571-575, 2006.

G. Teilmann, Prevalence and Incidence of Precocious Pubertal Development in

, Denmark: An Epidemiologic Study Based on National Registries, Pediatrics, vol.116, pp.1323-1328, 2005.

, The Human Protein Atlas. Tissue expression of KCNT1

M. Uhlén, L. Fagerberg, B. M. Hallström, C. Lindskog, P. Oksvold et al.,

. Proteomics, Tissue-based map of the human proteome, J Child Neurol, vol.347, pp.717-722, 2000.

Q. Zhang, J. Li, Y. Zhao, X. Bao, L. Wei et al., , p.175

, Chinese patients with early-onset epileptic encephalopathy, Clin Genet, vol.91, pp.717-724, 2017.