Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3

Epilepsia
Georg-Christoph KorenkeOrtrud K Steinlein

Abstract

Mutations in NPRL3, one of three genes that encode proteins of the mTORC1-regulating GATOR1 complex, have recently been reported to cause cortical dysplasia with focal epilepsy. We have now analyzed a multiplex epilepsy family by whole exome sequencing and identified a frameshift mutation (NM_001077350.2; c.1522delG; p.E508Rfs*46) within exon 13 of NPRL3. This truncating mutation causes an epilepsy phenotype characterized by early childhood onset of mainly nocturnal frontal lobe epilepsy. The penetrance in our family was low (three affected out of six mutation carriers), compared to families with either ion channel- or DEPDC5-associated familial nocturnal frontal lobe epilepsy. The absence of apparent structural brain abnormalities suggests that mutations in NPRL3 are not necessarily associated with focal cortical dysplasia but might be able to cause epilepsy by different, yet unknown pathomechanisms.

References

Jun 26, 2003·Epilepsia·Tobias LenigerOrtrud K Steinlein
Oct 20, 2012·Cerebral Cortex·Victoria TsaiPeter B Crino
Apr 2, 2013·Nature Genetics·Leanne M DibbensIngrid E Scheffer
Jan 28, 2015·Annals of Neurology·Stéphanie BaulacFabienne Picard
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Citations

Nov 11, 2016·Neurology. Genetics·Rikke S MøllerStéphanie Baulac
Oct 28, 2016·Expert Review of Neurotherapeutics·Philipp Sebastian ReifKarl Martin Klein
Jan 14, 2017·Neuroscience Letters·Simona Balestrini, Sanjay M Sisodiya
Apr 14, 2017·Expert Opinion on Therapeutic Targets·Kenneth A Myers, Ingrid E Scheffer
Jun 15, 2017·Epilepsia·Johannes R Lemke
Jan 17, 2020·Expert Review of Neurotherapeutics·Marcello ScalaPasquale Striano
Mar 9, 2020·Molecular Genetics and Genomics : MGG·Paul J DunnLyn R Griffiths
Oct 16, 2018·Frontiers in Pharmacology·Jaya KumarSrijit Das
Dec 12, 2018·Nihon yakurigaku zasshi. Folia pharmacologica Japonica·Saeko Ishida
May 16, 2018·Annals of Clinical and Translational Neurology·Hortense de CalbiacSorana Ciura
Aug 9, 2020·Frontiers in Neuroanatomy·David M Feliciano
Mar 23, 2021·American Journal of Medical Genetics. Part a·Indira ChandrasekarMaries Joseph
May 25, 2021·Brain : a Journal of Neurology·Felicia MermerJing-Qiong Kang
Oct 12, 2021·Brain Communications·Patrick B MoloneyNorman Delanty

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