WFRF:(Wick M. C.)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 07464naa a2201717 4500 | |
| 001 | oai:gup.ub.gu.se/273681 | |
| 003 | SwePub | |
| 008 | 240528s2018 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:139492388 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2736812 URI |
| 024 | 7 | a https://doi.org/10.1016/j.ajhg.2018.09.0062 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1394923882 URI |
| 040 | a (SwePub)gud (SwePub)ki | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Helbig, K. L.4 aut |
| 245 | 1 0 | a De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias |
| 264 | 1 | b Elsevier BV,c 2018 |
| 520 | a Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the alpha(1)-subunit of the voltage-gated Ca(V)2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed Ca(V)2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a calcium-channel dysfunction | |
| 653 | a r-type | |
| 653 | a molecular pathology | |
| 653 | a ilae | |
| 653 | a commission | |
| 653 | a position paper | |
| 653 | a ca2+ channels | |
| 653 | a mice lacking | |
| 653 | a disorders | |
| 653 | a mutations | |
| 653 | a classification | |
| 653 | a Genetics & Heredity | |
| 700 | 1 | a Lauerer, R. J.4 aut |
| 700 | 1 | a Bahr, J. C.4 aut |
| 700 | 1 | a Souza, I. A.4 aut |
| 700 | 1 | a Myers, C. T.4 aut |
| 700 | 1 | a Uysal, B.4 aut |
| 700 | 1 | a Schwarz, N.4 aut |
| 700 | 1 | a Gandini, M. A.4 aut |
| 700 | 1 | a Huang, S.4 aut |
| 700 | 1 | a Keren, B.4 aut |
| 700 | 1 | a Mignot, C.4 aut |
| 700 | 1 | a Afenjar, A.4 aut |
| 700 | 1 | a de Villemeur, T. B.4 aut |
| 700 | 1 | a Heron, D.4 aut |
| 700 | 1 | a Nava, C.4 aut |
| 700 | 1 | a Valence, S.4 aut |
| 700 | 1 | a Buratti, J.4 aut |
| 700 | 1 | a Fagerberg, C. R.4 aut |
| 700 | 1 | a Soerensen, K. P.4 aut |
| 700 | 1 | a Kibaek, M.4 aut |
| 700 | 1 | a Kamsteeg, E. J.4 aut |
| 700 | 1 | a Koolen, D. A.4 aut |
| 700 | 1 | a Gunning, B.4 aut |
| 700 | 1 | a Schelhaas, H. J.4 aut |
| 700 | 1 | a Kruer, M. C.4 aut |
| 700 | 1 | a Fox, J.4 aut |
| 700 | 1 | a Bakhtiari, S.4 aut |
| 700 | 1 | a Jarrar, R.4 aut |
| 700 | 1 | a Padilla-Lopez, S.4 aut |
| 700 | 1 | a Lindstrom, K.4 aut |
| 700 | 1 | a Jin, S. C.4 aut |
| 700 | 1 | a Zeng, X.4 aut |
| 700 | 1 | a Bilguvar, K.4 aut |
| 700 | 1 | a Papavasileiou, A.4 aut |
| 700 | 1 | a Xin, Q. H.4 aut |
| 700 | 1 | a Zhu, Changlian,d 1964u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology4 aut0 (Swepub:gu)xzhuch |
| 700 | 1 | a Boysen, K.4 aut |
| 700 | 1 | a Vairo, F.4 aut |
| 700 | 1 | a Lanpher, B. C.4 aut |
| 700 | 1 | a Klee, E. W.4 aut |
| 700 | 1 | a Tillema, J. M.4 aut |
| 700 | 1 | a Payne, E. T.4 aut |
| 700 | 1 | a Cousin, M. A.4 aut |
| 700 | 1 | a Kruisselbrink, T. M.4 aut |
| 700 | 1 | a Wick, M. J.4 aut |
| 700 | 1 | a Baker, J.4 aut |
| 700 | 1 | a Haan, E.4 aut |
| 700 | 1 | a Smith, N.4 aut |
| 700 | 1 | a Corbett, M. A.4 aut |
| 700 | 1 | a MacLennan, A. H.4 aut |
| 700 | 1 | a Gecz, J.4 aut |
| 700 | 1 | a Biskup, S.4 aut |
| 700 | 1 | a Goldmann, E.4 aut |
| 700 | 1 | a Rodan, L. H.4 aut |
| 700 | 1 | a Kichula, E.4 aut |
| 700 | 1 | a Segal, E.4 aut |
| 700 | 1 | a Jackson, K. E.4 aut |
| 700 | 1 | a Asamoah, A.4 aut |
| 700 | 1 | a Dimmock, D.4 aut |
| 700 | 1 | a McCarrier, J.4 aut |
| 700 | 1 | a Botto, L. D.4 aut |
| 700 | 1 | a Filloux, F.4 aut |
| 700 | 1 | a Tvrdik, T.4 aut |
| 700 | 1 | a Cascino, G. D.4 aut |
| 700 | 1 | a Klingerman, S.4 aut |
| 700 | 1 | a Neumann, C.4 aut |
| 700 | 1 | a Wang, R.4 aut |
| 700 | 1 | a Jacobsen, J. C.4 aut |
| 700 | 1 | a Nolan, M. A.4 aut |
| 700 | 1 | a Snell, R. G.4 aut |
| 700 | 1 | a Lehnert, K.4 aut |
| 700 | 1 | a Sadleir, L. G.4 aut |
| 700 | 1 | a Anderlid, B. M.u Karolinska Institutet4 aut |
| 700 | 1 | a Kvarnung, M.u Karolinska Institutet4 aut |
| 700 | 1 | a Guerrini, R.4 aut |
| 700 | 1 | a Friez, M. J.4 aut |
| 700 | 1 | a Lyons, M. J.4 aut |
| 700 | 1 | a Leonhard, J.4 aut |
| 700 | 1 | a Kringlen, G.4 aut |
| 700 | 1 | a Casas, K.4 aut |
| 700 | 1 | a El Achkar, C. M.4 aut |
| 700 | 1 | a Smith, L. A.4 aut |
| 700 | 1 | a Rotenberg, A.4 aut |
| 700 | 1 | a Poduri, A.4 aut |
| 700 | 1 | a Sanchis-Juan, A.4 aut |
| 700 | 1 | a Carss, K. J.4 aut |
| 700 | 1 | a Rankin, J.4 aut |
| 700 | 1 | a Zeman, A.4 aut |
| 700 | 1 | a Raymond, F. L.4 aut |
| 700 | 1 | a Blyth, M.4 aut |
| 700 | 1 | a Kerr, B.4 aut |
| 700 | 1 | a Ruiz, K.4 aut |
| 700 | 1 | a Urquhart, J.4 aut |
| 700 | 1 | a Hughes, I.4 aut |
| 700 | 1 | a Banka, S.4 aut |
| 700 | 1 | a Hedrich, U. B. S.4 aut |
| 700 | 1 | a Scheffer, I. E.4 aut |
| 700 | 1 | a Helbig, I.4 aut |
| 700 | 1 | a Zamponi, G. W.4 aut |
| 700 | 1 | a Lerche, H.4 aut |
| 700 | 1 | a Mefford, H. C.4 aut |
| 700 | 1 | a Deciphering Dev Disorders, Study4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi4 org |
| 773 | 0 | t American Journal of Human Geneticsd : Elsevier BVg 103:5, s. 666-678q 103:5<666-678x 0002-9297x 1537-6605 |
| 856 | 4 | u http://www.cell.com/article/S0002929718303173/pdf |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/273681 |
| 856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2018.09.006 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:139492388 |
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- Helbig, K. L.
- Lauerer, R. J.
- Bahr, J. C.
- Souza, I. A.
- Myers, C. T.
- Uysal, B.
- visa fler...
- Schwarz, N.
- Gandini, M. A.
- Huang, S.
- Keren, B.
- Mignot, C.
- Afenjar, A.
- de Villemeur, T. ...
- Heron, D.
- Nava, C.
- Valence, S.
- Buratti, J.
- Fagerberg, C. R.
- Soerensen, K. P.
- Kibaek, M.
- Kamsteeg, E. J.
- Koolen, D. A.
- Gunning, B.
- Schelhaas, H. J.
- Kruer, M. C.
- Fox, J.
- Bakhtiari, S.
- Jarrar, R.
- Padilla-Lopez, S ...
- Lindstrom, K.
- Jin, S. C.
- Zeng, X.
- Bilguvar, K.
- Papavasileiou, A ...
- Xin, Q. H.
- Zhu, Changlian, ...
- Boysen, K.
- Vairo, F.
- Lanpher, B. C.
- Klee, E. W.
- Tillema, J. M.
- Payne, E. T.
- Cousin, M. A.
- Kruisselbrink, T ...
- Wick, M. J.
- Baker, J.
- Haan, E.
- Smith, N.
- Corbett, M. A.
- MacLennan, A. H.
- Gecz, J.
- Biskup, S.
- Goldmann, E.
- Rodan, L. H.
- Kichula, E.
- Segal, E.
- Jackson, K. E.
- Asamoah, A.
- Dimmock, D.
- McCarrier, J.
- Botto, L. D.
- Filloux, F.
- Tvrdik, T.
- Cascino, G. D.
- Klingerman, S.
- Neumann, C.
- Wang, R.
- Jacobsen, J. C.
- Nolan, M. A.
- Snell, R. G.
- Lehnert, K.
- Sadleir, L. G.
- Anderlid, B. M.
- Kvarnung, M.
- Guerrini, R.
- Friez, M. J.
- Lyons, M. J.
- Leonhard, J.
- Kringlen, G.
- Casas, K.
- El Achkar, C. M.
- Smith, L. A.
- Rotenberg, A.
- Poduri, A.
- Sanchis-Juan, A.
- Carss, K. J.
- Rankin, J.
- Zeman, A.
- Raymond, F. L.
- Blyth, M.
- Kerr, B.
- Ruiz, K.
- Urquhart, J.
- Hughes, I.
- Banka, S.
- Hedrich, U. B. S ...
- Scheffer, I. E.
- Helbig, I.
- Zamponi, G. W.
- Lerche, H.
- Mefford, H. C.
- Deciphering Dev ...
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