08
Feb
Common neuropsychiatric features in 22q11.2 deletion syndrome
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Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome 22q11.2 deletion is one of the most common microdeletion syndromes. The clinical features of this condition are broad and highly variable across physical, developmental, and mental health domains. This article analyzes neurological and psychiatric characteristics... Read More
16
Aug
13q34 deletions and the role of genes SOX1 and ARHGEF7
13q34 deletions – or deletions at the terminal segment of the long arm of chromosome 13 – are very rare. Therefore, symptoms of 13q34 deletions are not well described. This article reports two brothers with 13q34 deletions, whose symptoms include intellectual disability, epilepsy, and genitourinary tract defects. From these cases,... Read More
06
Jul
5q14.3 deletions, the ADGRV1 gene and epilepsy
Chromosome 5q14.3 deletions – deletions within a region of the long arm of chromosome 5 – cause intellectual disability, epilepsy, dysmorphisms (abnormal differences in body structure), structural brain abnormalities, and hypotonia (low muscle tone.) Seizure types found in 5q14.3 deletions typically include myoclonic seizures, infantile onset of febrile seizures, and... Read More
