Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, Guerrini R, Represa A - Human molecular genetics - Aou 2019
en savoir plus
+
en savoir plus
+
Impaired vocal communication, sleep-related discharges, and transient alteration of slow-wave sleep in developing mice lacking the GluN2A subunit of N-methyl-d-aspartate receptors.
Salmi M, Del Gallo F, Minlebaev M, Zakharov A, Pauly V, Perron P, Pons-Bennaceur A, Corby-Pellegrino S, Aniksztejn L, Lenck-Santini PP, Epsztein J, Khazipov R, Burnashev N, Bertini G, Szepetowski P - Epilepsia - Jul 2019
en savoir plus
+
en savoir plus
+
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Rivière JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P, Geneviève D - European journal of human genetics : EJHG - Jul 2019
en savoir plus
+
en savoir plus
+
Extracellular mild acidosis decreases the Ca permeability of the human NMDA receptors.
Plutino S, Sciaccaluga M, Fucile S - Cell calcium - Jun 2019
en savoir plus
+
en savoir plus
+
Early alterations in a mouse model of Rett syndrome: the GABA developmental shift is abolished at birth.
Lozovaya N, Nardou R, Tyzio R, Chiesa M, Pons-Bennaceur A, Eftekhari S, Bui TT, Billon-Grand M, Rasero J, Bonifazi P, Guimond D, Gaiarsa JL, Ferrari DC, Ben-Ari Y - Scientific reports - Jun 2019
en savoir plus
+
en savoir plus
+
Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.
Lesca G, Møller RS, Rudolf G, Hirsch E, Hjalgrim H, Szepetowski P - Epileptic disorders : international epilepsy journal with videotape - Mai 2019
en savoir plus
+
en savoir plus
+
Respiratory sympathetic modulation is augmented in chronic kidney disease.
Saha M, Menuet C, Sun QJ, Burke PGR, Hildreth CM, Allen AM, Phillips JK - Respiratory physiology & neurobiology - Avr 2019
en savoir plus
+
en savoir plus
+
Internal representation of hippocampal neuronal population spans a time-distance continuum.
Haimerl C, Angulo-Garcia D, Villette V, Reichinnek S, Torcini A, Cossart R, Malvache A - Proceedings of the National Academy of Sciences of the United States of America - Mar 2019
en savoir plus
+
en savoir plus
+