Mutations in the genes encoding the alpha-4, beta-2 and alpha-2 subunits of the neuronal nicotine acetylcholine receptor account for only 12% of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) families and a few sporadic cases, Recently two novel genes, DEPDC5 and KCNT1, have been implicated in ADNFLE, confirming the genetic heterogeneity of this epilepsy syndrome.
L. Licchetta, T.Pippucci, S. Baldassari, F.Provini, B.Mostacci, I.Naldi, et al. (2016). Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations. CLINICAL CASES AND REVIEWS IN EPILEPSY, 1(1), 28-32 [10.11138/ccre/2016.1.1.028].
Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations
LICCHETTA, LAURA;PIPPUCCI, TOMMASO;PROVINI, FEDERICA;NALDI, ILARIA;SERI, MARCO;BISULLI, FRANCESCA;TINUPER, PAOLO;
2016
Abstract
Mutations in the genes encoding the alpha-4, beta-2 and alpha-2 subunits of the neuronal nicotine acetylcholine receptor account for only 12% of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) families and a few sporadic cases, Recently two novel genes, DEPDC5 and KCNT1, have been implicated in ADNFLE, confirming the genetic heterogeneity of this epilepsy syndrome.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
