Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

Neurology

Volumn 84, Issue 15, 2015, Pages 1520-1528

  Conti, Valerio ^a   Aracri, Patrizia ^b,c   Chiti, Laura ^a   Brusco, Simone ^b,c   Mari, Francesco ^a   Marini, Carla ^a   Albanese, Maria ^d   Marchi, Angela ^d   Liguori, Claudio ^d   Placidi, Fabio ^d   Romigi, Andrea ^d,e   Becchetti, Andrea ^b,c   Guerrini, Renzo ^a,f  

^a UNIVERSITY OF FLORENCE   (Italy)

^b Department of Biotechnology and Biosciences Center of Neuroscience   (China)

^c UNIVERSITY OF MILANO BICOCCA   (Italy)

^d TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^e IRCCS NEUROMED   (Italy)

^f DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINE; NICOTINIC RECEPTOR; NICOTINIC RECEPTOR ALPHA2BETA2; NICOTINIC RECEPTOR ALPHA2BETA4; OXCARBAZEPINE; UNCLASSIFIED DRUG; CHRNA2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AROUSAL; ARTICLE; AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; CELL STIMULATION; CHEMOSENSITIVITY; CHILD; CHRNA2 GENE; DNA FLANKING REGION; ELECTRIC CURRENT; ELECTROENCEPHALOGRAM; EXON; FEMALE; FRONTAL LOBE EPILEPSY; GAIN OF FUNCTION MUTATION; GENE; GENE SEGREGATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MEMBRANE PERMEABILITY; MISSENSE MUTATION; MUTANT; MUTATION RATE; NOCTURNAL FRONTAL LOBE EPILEPSY; NOCTURNAL SEIZURE; PATCH CLAMP TECHNIQUE; POINT MUTATION; PRIORITY JOURNAL; SEIZURE; SEQUENCE ANALYSIS; WHOLE CELL; WILD TYPE; COHORT ANALYSIS; COMPLICATION; GENETICS; GENOTYPE; MIDDLE AGED; PARASOMNIAS; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EPILEPSY, FRONTAL LOBE; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PARASOMNIAS; PEDIGREE; RECEPTORS, NICOTINIC;

EID: 84927723155     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001471     Document Type: Article

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