Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.
Auvin
Stéphane
S
Holder-Espinasse
Muriel
M
Lamblin
Marie-Dominique
MD
Andrieux
Joris
J
D022981:Allelic Imbalance / Q000235:genetics; D015220:Calcium Channels / Q000235:genetics*; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000235:genetics*; D017353:Gene Deletion; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013036:Spasms, Infantile / Q000235:genetics*; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type