Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
نویسندگان
چکیده
Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole-exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual understanding of single and combined gene functions in brain health and disease.
منابع مشابه
Malformations of the Cerebral Cortex as a Cause of Mental Retardation and Epilepsy: Anatomoclinical and Genetic Spectrum*
The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognized and specific causati...
متن کاملAbnormalities of cortical development and epilepsy
− Few studies have focused on the clinical, neurophysiological and prognostic features of adult epileptic patients with malformation of cortical development. We reviewed the clinical data of a series of sixty adult epileptic patients with different types of malformation of cortical development, who had been followed at the Epilepsy Centre of the Department of Neurological Sciences of the Univer...
متن کاملELECTRONIC LETTER Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes
P olymicrogyria (PMG) is a cortical development defect that results in an irregular brain surface, with multiple, small, partly fused gyri separated by shallow sulci. The perisylvian form is the most common pattern of PMG seen on magnetic resonance imaging scans of the brain. Bilateral perisylvian PMG (BPP) often is accompanied by mild mental retardation, epilepsy, and pseudobulbar palsy, and t...
متن کاملPatient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
P olymicrogyria (PMG) is a cortical development defect that results in an irregular brain surface, with multiple, small, partly fused gyri separated by shallow sulci. The perisylvian form is the most common pattern of PMG seen on magnetic resonance imaging scans of the brain. Bilateral perisylvian PMG (BPP) often is accompanied by mild mental retardation, epilepsy, and pseudobulbar palsy, and t...
متن کاملAbnormalities of cortical development and epilepsy
− Malformations of the cerebral cortex (MCC) are often associated with severe epilepsy and developmental delay. About 40% of drug-resistant epilepsies are caused by MCC. Classification of MCC is based on embryological brain development, recognising forms that result from faulty neuronal proliferation, neuronal migration and cortical organisation. Hemimegalencephaly, an enlarged dysplastic hemis...
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