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.

Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations / L. Licchetta; T.Pippucci;S. Baldassari; F.Provini; B.Mostacci; I.Naldi; F.Palombo; P. Magini; M. Seri; F. Bisulli; P. Tinuper; LICE NFLE Study Group. - In: CLINICAL CASES AND REVIEWS IN EPILEPSY. - ISSN 2499-1783. - STAMPA. - 1:1(2016), pp. 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.
2016
Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations / L. Licchetta; T.Pippucci;S. Baldassari; F.Provini; B.Mostacci; I.Naldi; F.Palombo; P. Magini; M. Seri; F. Bisulli; P. Tinuper; LICE NFLE Study Group. - In: CLINICAL CASES AND REVIEWS IN EPILEPSY. - ISSN 2499-1783. - STAMPA. - 1:1(2016), pp. 28-32. [10.11138/ccre/2016.1.1.028]
L. Licchetta; T.Pippucci;S. Baldassari; F.Provini; B.Mostacci; I.Naldi; F.Palombo; P. Magini; M. Seri; F. Bisulli; P. Tinuper; LICE NFLE Study Group
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/534700
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