TY - GEN AU - Erez,Ayelet AU - Patel,Amina J AU - Wang,Xueqing AU - Xia,Zhilian AU - Bhatt,Samarth S AU - Craigen,William AU - Cheung,Sau Wai AU - Lewis,Richard A AU - Fang,Ping AU - Davenport,Sandra L H AU - Stankiewicz,Pawel AU - Lalani,Seema R TI - Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder SN - 1364-6753 PY - 2009///1207 KW - Abnormalities, Multiple KW - genetics KW - Age of Onset KW - Amino Acid Sequence KW - Base Sequence KW - Child, Preschool KW - Comparative Genomic Hybridization KW - DNA Mutational Analysis KW - Female KW - Humans KW - In Situ Hybridization, Fluorescence KW - Infant KW - Male KW - Molecular Sequence Data KW - Phenotype KW - Protein Serine-Threonine Kinases KW - Rett Syndrome KW - Seizures KW - Sequence Deletion KW - X Chromosome Inactivation KW - Young Adult N1 - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1007/s10048-009-0195-z ER -