Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Isolated somatic focal cortical dysplasia type 2 is caused by mutations of the TSC1/2 or MTOR genes that occure during lifetime and do not affect germ cells. The disease is characterized by dysfunctional brain development that results in intractable epilepsia.
| 1. |
Lim JS et al. (2017) Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 
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| 2. |
Lim JS et al. (2015) Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.
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| 3. |
Nakashima M et al. (2015) Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
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| 4. |
Møller RS et al. (2016) Germline and somatic mutations in the gene in focal cortical dysplasia and epilepsy.
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| 5. |
Kabat J et al. (2012) Focal cortical dysplasia - review.
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| 6. |
Taylor DC et al. (1971) Focal dysplasia of the cerebral cortex in epilepsy.
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| 7. |
Taylor DC et al. (1971) Biological mechanisms influencing the outcome of seizures in response to fever.
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| 8. |
Wolf HK et al. (1995) Glioneuronal malformative lesions and dysembryoplastic neuroepithelial tumors in patients with chronic pharmacoresistant epilepsies.
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| 9. |
Palmini A et al. (2004) Terminology and classification of the cortical dysplasias.
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| 10. |
Lawson JA et al. (2005) Distinct clinicopathologic subtypes of cortical dysplasia of Taylor.
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| 11. |
Siegel AM et al. (2005) Adult-onset epilepsy in focal cortical dysplasia of Taylor type.
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