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genetic disorder

Researchers move closer to solving puzzle of 15q13.3 microdeletion syndrome

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that usually contains six genes, but which one of the genes is responsible for the clinical characteristics of patients has not been clear. In this study, a multidisciplinary team of researchers at Baylor College of Medicine and Texas Children’s Hospital has identified in a mouse model OTUD7A as the gene within the deleted region that accounts for many characteristics of the human condition. The researchers also discovered that mice deficient in the gene Otud7a have fewer dendritic spines, small protrusions involved in neuron communication, which might be related to the neurological deficits. The r...


Melbourne researchers say they have identified the genetic causes of the most common types of epilepsy, bringing them one step closer to finding a cure for the condition. Epilepsy is a neurological condition that causes recurrent seizures and affects about 2% of people globally A total of 8,000 people in Australia, Asia, North America and Europe were screened using new technology to provide them with a large enough sample to identify the two recurring genes. The head of medicine at the Royal Melbourne Hospital and the University of Melbourne, Professor Terry O’Brien, was involved in the Australian arm of the study. He told AM the study was a significant breakthrough for genetic generalized epilepsies. “What we discovered is that there are two genes that seem to be particularly ...

Kids With Genetic Disorder Often Misdiagnosed With Autism

Since so many of our children with epilepsy have autism as well we post this article for their families.  EpilepsyU.com Children with a genetic disorder known as 22q11.2 deletion syndrome (22q) who are also frequently thought to have autism spectrum disorder (ASD) are often misdiagnosed, new research suggests. Social impairment associated with the developmental delays from 22q may be mimicking the features of ASD, which can then lead to an ASD misdiagnosis, according to investigators. Results from the study showed that of 29 children with 22q, none met the strict diagnostic criteria for autism ― which include elevated scores on both the gold standard Autism Diagnostic Observation Schedule (ADOS) and the Social Communication Questionnaire (SCQ).

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