Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities

European Journal of Medical Genetics

Volumn 58, Issue 4, 2015, Pages 205-210

  Isrie, Mala ^a,b   Zamani Esteki, Masoud ^a   Peeters, Hilde ^a   Voet, Thierry ^a   Van Houdt, Jeroen ^a   Van Paesschen, Wim ^a   Van Esch, Hilde ^a,b  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Consanguineous; Exome sequencing; Linkage; STYXL1

Indexed keywords

CARBAMAZEPINE; LAMOTRIGINE; OXCARBAZEPINE; PROTEIN; SERINE THREONINE TYROSINE INTERACTING LIKE 1; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; APOPTOSIS REGULATORY PROTEIN; MK-STYX PROTEIN, HUMAN;

ADOLESCENT; AGGRESSION; ANXIETY; ARTICLE; ASIAN; BEHAVIOR DISORDER; CASE REPORT; CHILD; COGNITIVE DEFECT; CONSANGUINEOUS MARRIAGE; EPILEPSY; FAMILY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC EPILEPSY; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PROTEIN EXPRESSION; PSYCHOSIS; SEIZURE; SLEEP DISORDER; X CHROMOSOME INACTIVATION; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; DNA SEQUENCE; EXOME; FEMALE; GENETIC LINKAGE; GENETICS; HIGH THROUGHPUT SEQUENCING; NUCLEOTIDE SEQUENCE; PROBLEM BEHAVIOR; PSYCHOLOGY;

ADOLESCENT; ADULT; APOPTOSIS REGULATORY PROTEINS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; EPILEPSY; EXOME; FAMILY; FEMALE; GENETIC LINKAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; PROBLEM BEHAVIOR; SEQUENCE ANALYSIS, DNA;

EID: 84928945330     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.02.006     Document Type: Article

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