Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 14-11-2012
Symbol DEL2Q24
Location 2q24.2
Name chromosome 2 interstitial deletion, including sub-band 2q24.3
Corresponding gene SCN1A , ITGB6 , SCN2A , SCN3A
Other symbol(s) SMEI, DUP2q24
Main clinical features
  • severe epilepsy resembling severe myoclonic epilepsy of infancy/ Dravet syndrome (SMEI/DS) (see SMEI2), PMID: 18539002
  • dysmorphic features including ear abnormalities, microcephaly, micrognathia and brachysyndactyly
  • relationship between haploinsufficiency of ITGB6 and pulmonary dysfunction
    • Genetic determination chromosomal
    Prevalence chromosomal rearrangements involving SCN1A and contiguous genes are detectable in about 2-3% of patients with Dravet syndrome, P
    Related entries SMEI2
    Function/system disorder
    Gene product
    Name contiguous gene syndrome
    Remark(s) 2q24 microduplications may also be associated to familial neonatal seizures with intellectual disability, PMID: 20384724,, PMID: 23016767
    Genotype/Phenotype correlations 2q24 deletions not involving the SCN cluster are associated with fewer neurobehavioral problems, but may predispose to congenital malformations, PMID: 23023937