Korenke, Georg-Christoph, Eggert, Marlene, Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Steinlein, Ortrud K. (2016). Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia, 57 (3). S. E60 - 4. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Korenke, Georg-ChristophUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eggert, MarleneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sander, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steinlein, Ortrud K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-283101
DOI: 10.1111/epi.13307
Journal or Publication Title: Epilepsia
Volume: 57
Number: 3
Page Range: S. E60 - 4
Date: 2016
Publisher: WILEY-BLACKWELL
Place of Publication: HOBOKEN
ISSN: 1528-1167
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
FAMILIAL FOCAL EPILEPSY; CORTICAL DYSPLASIA; DEPDC5 MUTATIONS; SUBUNITMultiple languages
Clinical NeurologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/28310

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