Central TSC2 missense mutations are associated with a reduced risk of infantile spasms

Epilepsy Research

Volumn 103, Issue 1, 2013, Pages 83-87

  van Eeghen, Agnies M ^a,b   Nellist, Mark ^b   van Eeghen, Elmer E ^a   Thiele, Elizabeth A ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Epilepsy; Genetics; Infantile spasms; Phenotype; TSC

Indexed keywords

TUBERIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; EPILEPSY; EXON; FEMALE; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INCIDENCE; INFANTILE SPASM; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RISK REDUCTION; SCHOOL CHILD; TSC2 GENE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; INCIDENCE; INFANT; MALE; MIDDLE AGED; MUTATION, MISSENSE; SPASMS, INFANTILE; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 84872159396     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2012.07.007     Document Type: Article

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