Clinical Genetic Characteristics of Epilepsy Due to Mutations in the PCDH19 Gene (OMIM: 300088)
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s11055-020-01011-z.pdf
Reference21 articles.
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2. K. R. Veeramah, L. Johnstone, T. M. Karafet, et al., “Exome sequencing reveals new causal mutations in children with epileptic encephalopathies,” Epilepsia, 54, No. 7, 1270–1281 (2013), https://doi.org/10.1111/epi.12201.
3. R. H. Thomas and S. F. Berkovic, “The hidden genetics of epilepsy – a clinically important new paradigm,” Nat. Rev. Neurol., 10, No. 5, 283–292 (2014), https://doi.org/10.1038/nrneurol.2014.62.
4. Engel, J., Jr. and the International League Against Epilepsy (ILAE), “A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology,” Epilepsia, 42, No. 6, 796–803 (2001), https://doi.org/10.1046/j.1528-1157.2001.10401.x.
5. R. C. Juberg and C. D. Hellman, “A new familial form of convulsive disorder and mental retardation limited to females,” J. Pediatr., 79, No. 5, 726–732 (1971), https://doi.org/10.1016/S0022-3476(71)80382-7.
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1. PCDH19-clustering epilepsy, pathophysiology and clinical significance;Epilepsy & Behavior;2024-05
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