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

Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betuel; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xin, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C.

dc.contributor.author	Lauerer-Braun, Robert
dc.contributor.author	Bahr, Jacqueline C.
dc.contributor.author	Schwarz, Niklas
dc.contributor.author	Goldmann, Eva
dc.contributor.author	Hedrich, Ulrike B. S.
dc.contributor.author	Lerche, Holger
dc.contributor.author	Uysal, Betül
dc.date.accessioned	2019-07-16T08:32:27Z
dc.date.available	2019-07-16T08:32:27Z
dc.date.issued	2018
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/90582
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2018.09.006	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190321153956_00614
utue.publikation.seiten	666-678	de_DE
utue.personen.roh	Helbig, Katherine L.
utue.personen.roh	Lauerer, Robert J.
utue.personen.roh	Bahr, Jacqueline C.
utue.personen.roh	Souza, Ivana A.
utue.personen.roh	Myers, Candace T.
utue.personen.roh	Uysal, Betuel
utue.personen.roh	Schwarz, Niklas
utue.personen.roh	Gandini, Maria A.
utue.personen.roh	Huang, Sun
utue.personen.roh	Keren, Boris
utue.personen.roh	Mignot, Cyril
utue.personen.roh	Afenjar, Alexandra
utue.personen.roh	de Villemeur, Thierry Billette
utue.personen.roh	Heron, Delphine
utue.personen.roh	Nava, Caroline
utue.personen.roh	Valence, Stephanie
utue.personen.roh	Buratti, Julien
utue.personen.roh	Fagerberg, Christina R.
utue.personen.roh	Soerensen, Kristina P.
utue.personen.roh	Kibaek, Maria
utue.personen.roh	Kamsteeg, Erik-Jan
utue.personen.roh	Koolen, David A.
utue.personen.roh	Gunning, Boudewijn
utue.personen.roh	Schelhaas, H. Jurgen
utue.personen.roh	Kruer, Michael C.
utue.personen.roh	Fox, Jordana
utue.personen.roh	Bakhtiari, Somayeh
utue.personen.roh	Jarrar, Randa
utue.personen.roh	Padilla-Lopez, Sergio
utue.personen.roh	Lindstrom, Kristin
utue.personen.roh	Jin, Sheng Chih
utue.personen.roh	Zeng, Xue
utue.personen.roh	Bilguvar, Kaya
utue.personen.roh	Papavasileiou, Antigone
utue.personen.roh	Xin, Qinghe
utue.personen.roh	Zhu, Changlian
utue.personen.roh	Boysen, Katja
utue.personen.roh	Vairo, Filippo
utue.personen.roh	Lanpher, Brendan C.
utue.personen.roh	Klee, Eric W.
utue.personen.roh	Tillema, Jan-Mendelt
utue.personen.roh	Payne, Eric T.
utue.personen.roh	Cousin, Margot A.
utue.personen.roh	Kruisselbrink, Teresa M.
utue.personen.roh	Wick, Myra J.
utue.personen.roh	Baker, Joshua
utue.personen.roh	Haan, Eric
utue.personen.roh	Smith, Nicholas
utue.personen.roh	Corbett, Mark A.
utue.personen.roh	MacLennan, Alastair H.
utue.personen.roh	Gecz, Jozef
utue.personen.roh	Biskup, Saskia
utue.personen.roh	Goldmann, Eva
utue.personen.roh	Rodan, Lance H.
utue.personen.roh	Kichula, Elizabeth
utue.personen.roh	Segal, Eric
utue.personen.roh	Jackson, Kelly E.
utue.personen.roh	Asamoah, Alexander
utue.personen.roh	Dimmock, David
utue.personen.roh	McCarrier, Julie
utue.personen.roh	Botto, Lorenzo D.
utue.personen.roh	Filloux, Francis
utue.personen.roh	Tvrdik, Tatiana
utue.personen.roh	Cascino, Gregory D.
utue.personen.roh	Klingerman, Sherry
utue.personen.roh	Neumann, Catherine
utue.personen.roh	Wang, Raymond
utue.personen.roh	Jacobsen, Jessie C.
utue.personen.roh	Nolan, Melinda A.
utue.personen.roh	Snell, Russell G.
utue.personen.roh	Lehnert, Klaus
utue.personen.roh	Sadleir, Lynette G.
utue.personen.roh	Anderlid, Britt-Marie
utue.personen.roh	Kvarnung, Malin
utue.personen.roh	Guerrini, Renzo
utue.personen.roh	Friez, Michael J.
utue.personen.roh	Lyons, Michael J.
utue.personen.roh	Leonhard, Jennifer
utue.personen.roh	Kringlen, Gabriel
utue.personen.roh	Casas, Kari
utue.personen.roh	El Achkar, Christelle M.
utue.personen.roh	Smith, Lacey A.
utue.personen.roh	Rotenberg, Alexander
utue.personen.roh	Poduri, Annapurna
utue.personen.roh	Sanchis-Juan, Alba
utue.personen.roh	Carss, Keren J.
utue.personen.roh	Rankin, Julia
utue.personen.roh	Zeman, Adam
utue.personen.roh	Raymond, F. Lucy
utue.personen.roh	Blyth, Moira
utue.personen.roh	Kerr, Bronwyn
utue.personen.roh	Ruiz, Karla
utue.personen.roh	Urquhart, Jill
utue.personen.roh	Hughes, Imelda
utue.personen.roh	Banka, Siddharth
utue.personen.roh	Hedrich, Ulrike B. S.
utue.personen.roh	Scheffer, Ingrid E.
utue.personen.roh	Helbig, Ingo
utue.personen.roh	Zamponi, Gerald W.
utue.personen.roh	Lerche, Holger
utue.personen.roh	Mefford, Heather C.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	103	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE