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Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development
Y Z Ekşioğlu1, I E Scheffer, P Cardenas
1Department of Neurology, Beth Israel Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Neuron
|January 1, 1996
Summary
Periventricular heterotopia (PH) is a brain malformation linked to Xq28 markers. This condition causes epilepsy in affected individuals and is often lethal in males.
Area of Science:
- Neuroscience
- Human Genetics
- Developmental Biology
Background:
- Periventricular heterotopia (PH) is characterized by severe malformations of the human cerebral cortex.
- Understanding the genetic basis and phenotypic consequences of PH is crucial for diagnosing and managing affected individuals.
Purpose of the Study:
- To identify the genetic linkage of Periventricular heterotopia (PH).
- To characterize the clinical and pathological features of PH.
- To investigate the role of the PH gene in cortical development and epilepsy susceptibility.
Main Methods:
- Genetic linkage analysis using markers in distal Xq28.
- Pathological examination of brain tissue from individuals with PH.
- Clinical evaluation of neurological and external stigmata in affected individuals.
Main Results:
- PH is closely linked to markers in distal Xq28, with high lod scores.
- Affected females are obligatory mosaics for the mutation.
- PH is lethal in some affected males.
- PH malformations consist of differentiated cortical neurons in the subependymal zone.
- Individuals with PH have a high risk of epilepsy without other neurological deficits.
Conclusions:
- The gene responsible for PH is located in distal Xq28.
- The PH gene plays a critical role in normal cortical development.
- The PH gene is an important epilepsy susceptibility locus.