Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.
The authors report the study of a 30-month-old girl with refractory myoclonic epilepsy associated with mental retardation, growth delay, peculiar facial appearance, and minor physical anomalies. Extensive genetic studies were performed, including an array-based comparative genomic hybridization (array-CGH) that showed a cryptic interstitial deletion of 15q (5 Mb) affecting the 15q26.1-26.2 region. Partial deletions of the long arm of chromosome 15, including the 15q26 region, were observed in syndromic associations that typically include congenital diaphragmatic hernia, but neurologic features were poorly described and epileptic seizures were never reported. Our findings suggest that genes for seizures could be included in the 15q26.1q26.2 deletion interval.
Veredice
Chiara
C
Child Neurology and Psychiatry, Catholic University, Rome, Italy.
Bianco
Flaviana
F
Contaldo
Ilaria
I
Orteschi
Daniela
D
Stefanini
Maria Chiara
MC
Battaglia
Domenica
D
Lettori
Donatella
D
Guzzetta
Francesco
F
Zollino
Marcella
M
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D017668:Age of Onset; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D013577:Syndrome