Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

Erez, Ayelet

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. [electronic resource] - Neurogenetics Oct 2009 - 363-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1364-6753

10.1007/s10048-009-0195-z doi


Abnormalities, Multiple--genetics
Age of Onset
Amino Acid Sequence
Base Sequence
Child, Preschool
Comparative Genomic Hybridization
DNA Mutational Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Molecular Sequence Data
Phenotype
Protein Serine-Threonine Kinases--genetics
Rett Syndrome--genetics
Seizures--genetics
Sequence Deletion
X Chromosome Inactivation
Young Adult