Genetic syndromes associated with frontal lobe epilepsy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s10309-021-00455-8.pdf
Reference34 articles.
1. Aridon P, Marini C, Di Resta C et al (2006) Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 79:342–350. https://doi.org/10.1086/506459
2. Barcia G, Fleming MR, Deligniere A et al (2012) De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. https://doi.org/10.1038/ng.2441
3. Baulac S, Ishida S, Marsan E et al (2015) Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol 77:675–683. https://doi.org/10.1002/ana.24368
4. Blumcke I, Budday S, Poduri A et al (2021) Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours. Lancet Neurol 20:943–955. https://doi.org/10.1016/S1474-4422(21)00265-9
5. Chen Z‑H, Wang C, Zhuo M‑Q et al (2017) Exome sequencing identified a novel missense mutation c.464G〉A (p.G155D) in Ca 2+-binding protein 4 ( CABP4 ) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy. Oncotarget 8:78940–78947. https://doi.org/10.18632/oncotarget.20694
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