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
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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 - Jun 2019
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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
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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 - May 2019
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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
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Dynamic control of hippocampal spatial coding resolution by local visual cues.
Bourboulou R, Marti G, Michon FX, El Feghaly E, Nouguier M, Robbe D, Koenig J, Epsztein J - eLife - Mar 2019
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Gamma-aminobutyric acidergic transmission underlies interictal epileptogenicity in pediatric focal cortical dysplasia.
Blauwblomme T, Dossi E, Pellegrino C, Goubert E, Iglesias BG, Sainte-Rose C, Rouach N, Nabbout R, Huberfeld G - Annals of neurology - Feb 2019
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Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.
Bernard-Marissal N, van Hameren G, Juneja M, Pellegrino C, Louhivuori L, Bartesaghi L, Rochat C, El Mansour O, Médard JJ, Croisier M, Maclachlan C, Poirot O, Uhlén P, Timmerman V, Tricaud N, Schneider BL, Chrast R - Proceedings of the National Academy of Sciences of the United States of America - 02 2019
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