De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

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Helbig, KL (author)

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Article/chapterEnglish2019

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Elsevier BV,2019

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LIBRIS-ID:oai:prod.swepub.kib.ki.se:140457584
http://kipublications.ki.se/Default.aspx?queryparsed=id:140457584URI
https://doi.org/10.1016/j.ajhg.2019.02.015DOI

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Language:English

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Subject category:vet swepub-contenttype
Subject category:art swepub-publicationtype

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Lauerer, RJ (author)
Bahr, JC (author)
Souza, IA (author)
Myers, CT (author)
Uysal, B (author)
Schwarz, N (author)
Gandini, MA (author)
Huang, S (author)
Keren, B (author)
Mignot, C (author)
Afenjar, A (author)
de Villemeur, TB (author)
Heron, D (author)
Nava, C (author)
Valence, S (author)
Buratti, J (author)
Fagerberg, CR (author)
Soerensen, KP (author)
Kibaek, M (author)
Kamsteeg, EJ (author)
Koolen, DA (author)
Gunning, B (author)
Schelhaas, HJ (author)
Kruer, MC (author)
Fox, J (author)
Bakhtiari, S (author)
Jarrar, R (author)
Padilla-Lopez, S (author)
Lindstrom, K (author)
Jin, SC (author)
Zeng, X (author)
Bilguvar, K (author)
Papavasileiou, A (author)
Xing, QH (author)
Zhu, CL (author)
Boysen, K (author)
Vairo, F (author)
Lanpher, BC (author)
Klee, EW (author)
Tillema, JM (author)
Payne, ET (author)
Cousin, MA (author)
Kruisselbrink, TM (author)
Wick, MJ (author)
Baker, J (author)
Haan, E (author)
Smith, N (author)
Sadeghpour, A (author)
Davis, EE (author)
Katsanis, N (author)
Corbett, MA (author)
MacLennan, AH (author)
Gecz, J (author)
Biskup, S (author)
Goldmann, E (author)
Rodan, LH (author)
Kichula, E (author)
Segal, E (author)
Jackson, KE (author)
Asamoah, A (author)
Dimmock, D (author)
McCarrier, J (author)
Botto, LD (author)
Filloux, F (author)
Tvrdik, T (author)
Cascino, GD (author)
Klingerman, S (author)
Neumann, C (author)
Wang, R (author)
Jacobsen, JC (author)
Nolan, MA (author)
Snell, RG (author)
Lehnert, K (author)
Sadleir, LG (author)
Anderlid, BMKarolinska Institutet (author)
Kvarnung, M (author)
Guerrini, R (author)
Friez, MJ (author)
Lyons, MJ (author)
Leonhard, J (author)
Kringlen, G (author)
Casas, K (author)
El Achkar, CM (author)
Smith, LA (author)
Rotenberg, A (author)
Poduri, A (author)
Sanchis-Juan, A (author)
Carss, KJ (author)
Rankin, J (author)
Zeman, A (author)
Raymond, FL (author)
Blyth, M (author)
Kerr, B (author)
Ruiz, K (author)
Urquhart, J (author)
Hughes, I (author)
Banka, S (author)
Hedrich, UBS (author)
Scheffer, IE (author)
Helbig, I (author)
Zamponi, GW (author)
Lerche, H (author)
Mefford, HC (author)
Karolinska Institutet (creator_code:org_t)

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In:American journal of human genetics: Elsevier BV104:3, s. 562-5621537-66050002-9297

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By the author/editor: Helbig, KL; Lauerer, RJ; Bahr, JC; Souza, IA; Myers, CT; Uysal, B; show more...; Schwarz, N; Gandini, MA; Huang, S; Keren, B; Mignot, C; Afenjar, A; de Villemeur, TB; Heron, D; Nava, C; Valence, S; Buratti, J; Fagerberg, CR; Soerensen, KP; Kibaek, M; Kamsteeg, EJ; Koolen, DA; Gunning, B; Schelhaas, HJ; Kruer, MC; Fox, J; Bakhtiari, S; Jarrar, R; Padilla-Lopez, S; Lindstrom, K; Jin, SC; Zeng, X; Bilguvar, K; Papavasileiou, A; Xing, QH; Zhu, CL; Boysen, K; Vairo, F; Lanpher, BC; Klee, EW; Tillema, JM; Payne, ET; Cousin, MA; Kruisselbrink, T ...; Wick, MJ; Baker, J; Haan, E; Smith, N; Sadeghpour, A; Davis, EE; Katsanis, N; Corbett, MA; MacLennan, AH; Gecz, J; Biskup, S; Goldmann, E; Rodan, LH; Kichula, E; Segal, E; Jackson, KE; Asamoah, A; Dimmock, D; McCarrier, J; Botto, LD; Filloux, F; Tvrdik, T; Cascino, GD; Klingerman, S; Neumann, C; Wang, R; Jacobsen, JC; Nolan, MA; Snell, RG; Lehnert, K; Sadleir, LG; Anderlid, BM; Kvarnung, M; Guerrini, R; Friez, MJ; Lyons, MJ; Leonhard, J; Kringlen, G; Casas, K; El Achkar, CM; Smith, LA; Rotenberg, A; Poduri, A; Sanchis-Juan, A; Carss, KJ; Rankin, J; Zeman, A; Raymond, FL; Blyth, M; Kerr, B; Ruiz, K; Urquhart, J; Hughes, I; Banka, S; Hedrich, UBS; Scheffer, IE; Helbig, I; Zamponi, GW; Lerche, H; Mefford, HC; show less...

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