Rare variants in GABRG2 associated with sleep-related hypermotor epilepsy
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-022-11137-4.pdf
Reference44 articles.
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2. Provini F, Plazzi G, Tinuper P, Vandi S, Lugaresi E, Montagna P (1999) Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain 122(Pt 6):1017–1031. https://doi.org/10.1093/brain/122.6.1017
3. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, Andermann E, Desbiens R, Cendes F, Manson JI (1994) Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 343:515–517. https://doi.org/10.1016/s0140-6736(94)91463-x
4. Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11:201–203. https://doi.org/10.1038/ng1095-201
5. De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G (2000) The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 26:275–276. https://doi.org/10.1038/81566
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