De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies / EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. Collaborators: Appenzeller S; Balling R; Barisic N; Baulac S; Caglayan H; Craiu D; De Jonghe P; Depienne C; Dimova P; Djémié T;Gormley P; Guerrini R; Helbig I; Hjalgrim H; Hoffman-Zacharska D; Jähn J; Klein KM; Koeleman B; Komarek V;Krause R; Kuhlenbäumer G; Leguern E; Lehesjoki AE; Lemke JR; Lerche H; Linnankivi T; Marini C; May P; Møller RS; Muhle H; Pal D; Palotie A; Pendziwiat M; Robbiano A; Roelens F; Rosenow F; Selmer K; Serratosa JM; Sisodiya S; Stephani U; Sterbova K; Striano P; Suls A; Talvik T; von Spiczak S; Weber Y; Weckhuysen S; Zara F; Abou-Khalil B; Alldredge BK; Andermann E; Andermann F; Amron D; Bautista JF; Berkovic SF; Bluvstein J; Boro A; Cascino G;Consalvo D; Crumrine P; Devinsky O; Dlugos D; Epstein MP; Fiol M; Fountain NB; French J; Friedman D; Geller EB;Glauser T; Glynn S; Haas K; Haut SR; Hayward J; Helmers SL; Joshi S; Kanner A; Kirsch HE; Knowlton RC; Kossoff EH; Kuperman R; Kuzniecky R; Lowenstein DH; McGuire SM; Motika PV; Novotny EJ; Ottman R; Paolicchi JM;Parent J; Park K; Poduri A; Sadleir L; Scheffer IE; Shellhaas RA; Sherr E; Shih JJ; Singh R; Sirven J; Smith MC;Sullivan J; Thio LL; Venkat A; Vining EP; Von Allmen GK; Weisenberg JL; Widdess-Walsh P; Winawer MR; Allen AS;Berkovic SF; Cossette P; Delanty N; Dlugos D; Eichler EE; Epstein MP; Glauser T; Goldstein DB; Han Y; Heinzen EL; Johnson MR; Kuzniecky R; Lowenstein DH; Marson AG; Mefford HC; Nieh SE; O'Brien TJ; Ottman R; Petrou S;Petrovski S; Poduri A; Ruzzo EK; Scheffer IE; Sherr E.. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - STAMPA. - 95(4):(2014), pp. 360-370.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

GUERRINI, RENZO;Marini C;
2014

Abstract

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
2014
95(4)
360
370
EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. Collaborators: Appenzeller S; Balling R; Barisic N; Baulac S; Caglayan H; Craiu D; De Jonghe P; Depienne C; Dimova P; Djémié T;Gormley P; Guerrini R; Helbig I; Hjalgrim H; Hoffman-Zacharska D; Jähn J; Klein KM; Koeleman B; Komarek V;Krause R; Kuhlenbäumer G; Leguern E; Lehesjoki AE; Lemke JR; Lerche H; Linnankivi T; Marini C; May P; Møller RS; Muhle H; Pal D; Palotie A; Pendziwiat M; Robbiano A; Roelens F; Rosenow F; Selmer K; Serratosa JM; Sisodiya S; Stephani U; Sterbova K; Striano P; Suls A; Talvik T; von Spiczak S; Weber Y; Weckhuysen S; Zara F; Abou-Khalil B; Alldredge BK; Andermann E; Andermann F; Amron D; Bautista JF; Berkovic SF; Bluvstein J; Boro A; Cascino G;Consalvo D; Crumrine P; Devinsky O; Dlugos D; Epstein MP; Fiol M; Fountain NB; French J; Friedman D; Geller EB;Glauser T; Glynn S; Haas K; Haut SR; Hayward J; Helmers SL; Joshi S; Kanner A; Kirsch HE; Knowlton RC; Kossoff EH; Kuperman R; Kuzniecky R; Lowenstein DH; McGuire SM; Motika PV; Novotny EJ; Ottman R; Paolicchi JM;Parent J; Park K; Poduri A; Sadleir L; Scheffer IE; Shellhaas RA; Sherr E; Shih JJ; Singh R; Sirven J; Smith MC;Sullivan J; Thio LL; Venkat A; Vining EP; Von Allmen GK; Weisenberg JL; Widdess-Walsh P; Winawer MR; Allen AS;Berkovic SF; Cossette P; Delanty N; Dlugos D; Eichler EE; Epstein MP; Glauser T; Goldstein DB; Han Y; Heinzen EL; Johnson MR; Kuzniecky R; Lowenstein DH; Marson AG; Mefford HC; Nieh SE; O'Brien TJ; Ottman R; Petrou S;Petrovski S; Poduri A; Ruzzo EK; Scheffer IE; Sherr E.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/987420
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