Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: Genotype and epilepsy

Epileptic Disorders

Volumn 16, Issue 4, 2014, Pages 449-455

  Lee, Jin Sook ^a   Lim, Byung Chan ^a   Chae, Jong Hee ^a   Hwang, Yong Seung ^a   Seong, Moon Woo ^b   Park, Sung Sup ^b   Kim, Ki Joong ^a  

^a Seoul National University Children's Hospital   (South Korea)

^b Seoul National University Hospital   (South Korea)

Author keywords

Genotype; Outcome; Seizure type; TSC1; TSC2; Tuberous sclerosis complex

Indexed keywords

TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ARTICLE; CHILD; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FREQUENCY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANTILE SPASM; KOREA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; OUTCOME ASSESSMENT; RETROSPECTIVE STUDY; TSC1 GENE; TSC2 GENE; TUBEROUS SCLEROSIS; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; EPILEPSY; GENETICS; GENOTYPE; INFANT; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SOUTH KOREA;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; REPUBLIC OF KOREA; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 84920686801     PISSN: 12949361     EISSN: 19506945     Source Type: Journal    
DOI: 10.1684/epd.2014.0712     Document Type: Article

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