SCN3A deficiency associated with increased seizure susceptibility

Neurobiology of Disease

Volumn 102, Issue , 2017, Pages 38-48

  Lamar, Tyra ^a   Vanoye, Carlos G ^b   Calhoun, Jeffrey ^b   Wong, Jennifer C ^a   Dutton, Stacey B B ^a   Jorge, Benjamin S ^c   Velinov, Milen ^d,e   Escayg, Andrew ^a   Kearney, Jennifer A ^b  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^e ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Focal epilepsy; Nav1.3; SCN3A; Seizure susceptibility; Voltage gated sodium channel

Indexed keywords

ANTICONVULSIVE AGENT; VOLTAGE GATED SODIUM CHANNEL; MESSENGER RNA; SCN3A PROTEIN, HUMAN; SCN3A PROTEIN, MOUSE; SODIUM CHANNEL; SODIUM CHANNEL NAV1.3;

ABNORMAL POSTURE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APNEA; ARTICLE; BRADYCARDIA; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CYANOSIS; DEVELOPMENTAL DISORDER; DISEASE PREDISPOSITION; FACE ERYTHEMA; FEMALE; FLUSHING; FOCAL EPILEPSY; GAIN OF FUNCTION MUTATION; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HYPOPLASIA; KIDNEY DISEASE; LOCOMOTION; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MYDRIASIS; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NONHUMAN; PALLOR; PRESCHOOL CHILD; PTOSIS; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SCN3A GENE; SEIZURE; SPEECH DISORDER; SWEATING; WESTERN BLOTTING; WHOLE EXOME SEQUENCING; ANIMAL; BRAIN; C57BL MOUSE; DEFICIENCY; DISEASE MODEL; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; HEK293 CELL LINE; INFANT; METABOLISM; MOTOR ACTIVITY; PHYSIOLOGY; TRANSGENIC MOUSE;

ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; EPILEPSIES, PARTIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HEK293 CELLS; HUMANS; INFANT; MALE; MICE, INBRED C57BL; MICE, TRANSGENIC; MOTOR ACTIVITY; NAV1.3 VOLTAGE-GATED SODIUM CHANNEL; RNA, MESSENGER; SEIZURES; SODIUM CHANNELS;

EID: 85014304466     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2017.02.006     Document Type: Article

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