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Article

Nocturnal frontal lobe epilepsy caused by a mutation in the <scp>GATOR</scp>1 complex gene <i><scp>NPRL</scp>3</i>

20 Jan 2016

Abstract excerpt

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...

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Identifiers

PMID: 26786403
DOI: 10.1111/epi.13307

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