De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Journal of Medical Genetics

Volumn 52, Issue 5, 2015, Pages 330-337

  Blanchard, Maxime G ^a   Willemsen, Marjolein H ^b   Walker, Jaclyn B ^c   Dib Hajj, Sulayman D ^d,e   Waxman, Stephen G ^d,e   Jongmans, Marjolijn C J ^b   Kleefstra, Tjitske ^b   van de Warrenburg, Bart P ^f   Praamstra, Peter ^f   Nicolai, Joost ^g,h   Yntema, Helger G ^b   Bindels, René J M ^a   Meisler, Miriam H ^c   Kamsteeg, Erik Jan ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

^f RADBOUD UNIVERSITY   (Netherlands)

^g MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^h EPILEPSY CENTER KEMPENHAEGHE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.6; PROTEIN SUBUNIT; SCN8A PROTEIN, HUMAN;

ADULT; ARTICLE; ATAXIA; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CELL DENSITY; CHILD; CLINICAL FEATURE; CURRENT DENSITY; DYSTONIA; ELECTRIC POTENTIAL; EPILEPSY; EXOME; FEMALE; GAIN OF FUNCTION MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SANGER SEQUENCING; SCHOOL CHILD; SEIZURE; SEQUENCE ANALYSIS; SPASTIC PARAPLEGIA; STEADY STATE; WESTERN BLOTTING; WHOLE CELL PATCH CLAMP; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CELL LINE; CHEMISTRY; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; INTELLECTUAL DISABILITY; METABOLISM; MUTATION; PHENOTYPE; PROTEIN SUBUNIT;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CELL LINE; CHILD; EPILEPSY; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; NAV1.6 VOLTAGE-GATED SODIUM CHANNEL; PHENOTYPE; PROTEIN SUBUNITS;

EID: 84930618852     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102813     Document Type: Article

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