GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC - Nature genetics - Sep 2013
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An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.
Lauxmann S, Boutry-Kryza N, Rivier C, Mueller S, Hedrich UB, Maljevic S, Szepetowski P, Lerche H, Lesca G - Epilepsia - Sep 2013
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Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero.
Salmi M, Bruneau N, Cillario J, Lozovaya N, Massacrier A, Buhler E, Cloarec R, Tsintsadze T, Watrin F, Tsintsadze V, Zimmer C, Villard C, Lafitte D, Cardoso C, Bao L, Lesca G, Rudolf G, Muscatelli F, Pauly V, Khalilov I, Durbec P, Ben-Ari Y, Burnashev N, Represa A, Szepetowski P - Brain : a journal of neurology - Aou 2013
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Analytical insights on theta-gamma coupled neural oscillators.
Fontolan L, Krupa M, Hyafil A, Gutkin B - Journal of mathematical neuroscience - Aou 2013
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Consensus on diagnosis and management of JME: From founder's observations to current trends.
Kasteleijn-Nolst Trenité DG, Schmitz B, Janz D, Delgado-Escueta AV, Thomas P, Hirsch E, Lerche H, Camfield C, Baykan B, Feucht M, Martínez-Juárez IE, Duron RM, Medina MT, Rubboli G, Jerney J, Hermann B, Yacubian E, Koutroumanidis M, Stephani U, Salas-Puig J, Reed RC, Woermann F, Wandschneider B, Bureau M, Gambardella A, Koepp MJ, Gelisse P, Gurses C, Crespel A, Nguyen-Michel VH, Ferlazzo E, Grisar T, Helbig I, Koeleman BP, Striano P, Trimble M, Buono R, Cossette P, Represa A, Dravet C, Serafini A, Berglund IS, Sisodiya SM, Yamakawa K, Genton P - Epilepsy & behavior : E&B - Jul 2013
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The logic of inhibitory connectivity in the neocortex.
Fino E, Packer AM, Yuste R - The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry - Jun 2013
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GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome.
Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS, - The Journal of clinical endocrinology and metabolism - Jun 2013
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Focal Scn1a knockdown induces cognitive impairment without seizures.
Bender AC, Natola H, Ndong C, Holmes GL, Scott RC, Lenck-Santini PP - Neurobiology of disease - Jun 2013
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