Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy.
نویسنده
چکیده
1. Epi4K Consortium; Epilepsy Phenome/Genome Project; Allen AS et al. De novo mutations in epileptic encephalopathies. Nature 2013: 501 (7466): 217–221. 2. OrhanG, BockM, Schepers D et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. AnnNeurol 2014: 75 (3): 382–394. 3. Pena SD, Coimbra RL. Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. Clin Genet 2015: 87: e1–e3.
منابع مشابه
KCNA2-Related Epileptic Encephalopathy
Investigators from the University Leipzig and University of Tübingen report mutations of KCNA2 as a novel cause of epileptic encephalopathy.
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ورودعنوان ژورنال:
- Clinical genetics
دوره 88 2 شماره
صفحات -
تاریخ انتشار 2015