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

Epilepsia

Volumn 57, Issue 3, 2016, Pages e60-e63

  Korenke, Georg Christoph ^a   Eggert, Marlene ^b   Thiele, Holger ^c   Nürnberg, Peter ^c,d   Sander, Thomas ^c   Steinlein, Ortrud K ^b  

^a KLINIKUM OLDENBURG   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

Author keywords

GATOR1; mTORC1 Pathway; Nocturnal frontal lobe epilepsy; NPRL3; Oldenburg

Indexed keywords

DEPDC5 PROTEN; GATOR1 PROTEIN; LAMOTRIGINE; NICOTINIC RECEPTOR ALPHA2; NICOTINIC RECEPTOR ALPHA4; NICOTINIC RECEPTOR BETA2; NPRL3 PROTEIN; PERAMPANEL; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNT1; PROTEIN; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; NPRL3 PROTEIN, HUMAN;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; EXOME; EXON; FEMALE; FRAMESHIFT MUTATION; FRONTAL LOBE EPILEPSY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; NOCTURNAL FRONTAL LOBE EPILEPSY; NOCTURNAL SEIZURE; NONSENSE MEDIATED MRNA DECAY; ONSET AGE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; YOUNG ADULT; CASE REPORT; EPILEPSY, FRONTAL LOBE; GENETICS; PEDIGREE; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; EPILEPSY, FRONTAL LOBE; FEMALE; FRAMESHIFT MUTATION; GTPASE-ACTIVATING PROTEINS; HUMANS; MALE; PEDIGREE;

EID: 84960424563     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13307     Document Type: Article

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