Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
نویسندگان
چکیده
منابع مشابه
Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated with clinically relevant copy number variants (CNVs) as well as delineating clinical criteria, which may hel...
متن کاملMutations in HECW2 are associated with intellectual disability and epilepsy
BACKGROUND De novo mutations are a frequent cause of disorders related to brain development. We report the results of screening patients diagnosed with both epilepsy and intellectual disability (ID) using exome sequencing to identify known and new causative de novo mutations relevant to these conditions. METHODS Exome sequencing was performed on 39 patient-parent trios to identify de novo mut...
متن کاملIntellectual functions of patients with childhood-onset epilepsy.
The intellectual functions of 64 epileptic patients who had had an initial evaluation between five and 16 years of age, including the WISC, were re-evaluated after a period of at least five years. In general the seizure states had improved, and 50 per cent were in remission for between two and eight years. All but four were still taking at least one anticonvulsant drug. WISC IQ estimates showed...
متن کاملmitochondrial copy number and d-loop variants in pompe patients
objective: pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of neuromuscular diseases. we therefore aimed to compare mitochondrial copy number and mitochondrial displacement-loop sequence variation in infantile and ad...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2016
ISSN: 1471-2350
DOI: 10.1186/s12881-016-0294-2