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

Helbig, KL (author)

Lauerer, RJ (author)

Bahr, JC (author)

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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, BM (author)

Karolinska Institutet

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)

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 (creator_code:org_t)

Elsevier BV, 2019

2019

English.

In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 104:3, s. 562-562

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• Journal article (other academic/artistic)