Increased sensitivity of the neuronal nicotinic receptor α2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

American Journal of Human Genetics

Volumn 79, Issue 2, 2006, Pages 342-350

  Aridon, Paolo ^a   Marini, Carla ^d   Resta, Chiara Di ^b   Brilli, Elisa ^d   De Fusco, Maurizio ^a   Politi, Fausta ^b   Parrini, Elena ^d   Manfredi, Irene ^a   Pisano, Tiziana ^e   Pruna, Dario ^e   Curia, Giulia ^b   Cianchetti, Carlo ^e   Pasqualetti, Massimo ^d   Becchetti, Andrea ^b   Guerrini, Renzo ^d   Casari, Giorgio ^a,c  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^d UNIVERSITY OF PISA   (Italy)

^e UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; ASPARAGINE; CHOLINERGIC RECEPTOR; ISOLEUCINE; MUTANT PROTEIN; NICOTINIC ACETYLCHOLINE RECEPTOR ALPHA2; NICOTINIC ACETYLCHOLINE RECEPTOR ALPHA4; NICOTINIC ACETYLCHOLINE RECEPTOR BETA2; NICOTINIC RECEPTOR; RECEPTOR SUBUNIT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; AUTOMATISM; AUTOSOMAL DOMINANT DISORDER; BODY MOVEMENT; CELL STRAIN HEK293; CHILD; CHRNA2 GENE; CHRNA4 GENE; CHRNB2 GENE; CHROMOSOME 8P; CHROMOSOME 8Q; CLINICAL ARTICLE; CONTROLLED STUDY; EPILEPSY; FAMILIAL DISEASE; FEAR; FEMALE; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERKINESIA; ICTAL FEAR; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NARCOLEPSY; NIGHTMARE; NOCTURNAL SEIZURE; NOCTURNAL WANDERING; NUCLEOTIDE SEQUENCE; PARASOMNIA; PEDIGREE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; RECEPTOR GENE; RECEPTOR SENSITIVITY; SLEEP; SLEEP WALKING; TONGUE; WANDERING BEHAVIOR;

EID: 33746578967     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/506459     Document Type: Article

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