Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Autor: Michael G. Hanna, Kayihan Uluc, Roope Männikkö, Sanjay M. Sisodiya, Asli Gundogdu, Dilsad Turkdogan, Hande Caglayan, Sunay Usluer, Emma Matthews

Publikováno v: Epilepsia Open, Vol 4, Iss 3, Pp 498-503 (2019)
Epilepsia Open

SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea. We have recently identified similar SCN4A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19f9256ca880bf1e26801787ccf59fc2
https://doi.org/10.1002/epi4.12347

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)

Autor: Costin Leu, Janine Altmüller, Melek Aslı Kayserili, Aslı Gündoğdu Eken, Holger Thiele, S. Hande Çağlayan, Thomas Sander, Uluç Yiş, Sunay Usluer, Peter Nürnberg

Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 21(5)

Benign Familial Infantile Epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized seizures with onset at the age of 3-7 months and with favorable outcome. PRRT2 mutations are the most c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34bc71bb5a5ac4e941b53b966c5cbf90
https://pubmed.ncbi.nlm.nih.gov/28566192

Pitfalls in genetic testing: the story of missed SCN1A mutations

Autor: Rikke S. Møller, Sarah von Spiczak, Christel Depienne, Anna-Elina Lehesjoki, Corinna Hartmann, Sanjay M. Sisodiya, Davide Mei, Anna-Kaisa Anttonen, Carla Marini, Federico Zara, Hiltrud Muhle, Marjan J. A. van Kempen, Eva H. Brilstra, Eija Hämäläinen, Sunay Usluer, Tania Djémié, Helle Hjalgrim, Pasquale Striano, Ingo Helbig, Carolien G.F. de Kovel, Peter De Jonghe, Johannes R. Lemke, Eija Gaily, Hande Caglayan, Laura Hernandez-Hernandez, Jacinta M McMahon, Ulrich Stephani, Heather C Mefford, Beatriz G. Giráldez, Caroline Nava, Eric LeGuern, Aarno Palotie, Johanna A. Jaehn, Arvid Suls, Nienke E. Verbeek, Ingrid E. Scheffer, Sarah Weckhuysen, Gemma L. Carvill, Rosa Guerrero-López, Candace T. Myers, Costin Leu, Bobby P. C. Koeleman, Elena Gennaro, Renzo Guerrini, Padhraig Gormley, José M. Serratosa

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 4(4), 457. John Wiley and Sons Inc.
Molecular genetics & genomic medicine
Djémié, T, Weckhuysen, S, von Spiczak, S, Carvill, G L, Jaehn, J, Anttonen, A-K, Brilstra, E, Caglayan, H S, de Kovel, C G, Depienne, C, Gaily, E, Gennaro, E, Giraldez, B G, Gormley, P, Guerrero-López, R, Guerrini, R, Hämäläinen, E, Hartmann, C, Hernandez-Hernandez, L, Hjalgrim, H, Koeleman, B P C, Leguern, E, Lehesjoki, A-E, Lemke, J R, Leu, C, Marini, C, McMahon, J M, Mei, D, Møller, R S, Muhle, H, Myers, C T, Nava, C, Serratosa, J M, Sisodiya, S M, Stephani, U, Striano, P, van Kempen, M J A, Verbeek, N E, Usluer, S, Zara, F, Palotie, A, Mefford, H C, Scheffer, I E, De Jonghe, P, Helbig, I, Suls, A & EuroEPINOMICS-RES Dravet working group 2016, ' Pitfalls in genetic testing : the story of missed SCN1A mutations ', Molecular Genetics & Genomic Medicine, vol. 4, no. 4, pp. 457-464 . https://doi.org/10.1002/mgg3.217

BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adba39dfd4c08fc8ba932a54ab5f5a23
https://hdl.handle.net/11858/00-001M-0000-002B-9C61-D11858/00-001M-0000-002B-9C5F-4