Genetic heterogeneity in familial nocturnal frontal lobe epilepsy
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Elsevier
Reference53 articles.
1. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear;Aridon;Am. J. Hum. Genet.,2006
2. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy;Barcia;Nat. Genet.,2012
3. A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1;Bar-Peled;Science,2013
4. How mutations in the nAChRs can cause ADNFLE epilepsy;Bertrand;Epilepsia,2002
5. The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits;Bertrand;Neurobiol. Dis.,2005
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