Isolated focal cortical dysplasia type II
General Information (adopted from Orphanet):
Synonyms, Signs: |
CORTICAL DYSPLASIA OF TAYLOR CORTICAL DYSPLASIA OF TAYLOR WITHOUT BALLOON CELLS, INCLUDED CDTD, INCLUDED FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB, INCLUDED CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY, INCLUDED FOCAL CORTICAL DYSPLASIA, TYPE II FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIA, INCLUDED CDTBC, INCLUDED CORTICAL DYSPLASIA OF TAYLOR WITH BALLOON CELLS, INCLUDED FCDT CDT FCD type II |
Number of Symptoms | 27 |
OrphanetNr: | 268994 |
OMIM Id: |
607341
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ICD-10: |
Q04.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Sporadic [Omim] |
Age of onset: |
Adult onset Infantile onset [Omim] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Isolated focal cortical dysplasia
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001269) | Hemiparesis | 51 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002384) | Focal seizures with impairment of consciousness or awareness | 17 / 7739 | ||||
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(HPO:0100543) | Cognitive impairment | 230 / 7739 | ||||
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(OMIM) | Balloon cells (in type IIB) | 4 / 7739 | ||||
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(OMIM) | Focal thickening of the cortex on MRI (in type IIB) | 4 / 7739 | ||||
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(HPO:0002446) | Astrocytosis | 7 / 7739 | ||||
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(HPO:0007042) | Focal white matter lesions | 7 / 7739 | ||||
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(HPO:0002539) | Cortical dysplasia | 19 / 7739 | ||||
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(OMIM) | Seizures, severe, drug-resistant, intractable | 4 / 7739 | ||||
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(OMIM) | Multifocal areas of laminar dysmorphic neurons (in type IIA) | 4 / 7739 | ||||
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(OMIM) | Complex partial seizures, often with secondary generalization, are the most common type | 4 / 7739 | ||||
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(OMIM) | Blurring of the gray-white junction (in type IIB) | 4 / 7739 | ||||
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(OMIM) | Increased white matter abnormalities on T2 signalling (in type IIB) | 4 / 7739 | ||||
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(OMIM) | Disorganized cortical architecture | 4 / 7739 | ||||
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(OMIM) | Impaired cognition | 4 / 7739 | ||||
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(OMIM) | Blurry cortical-white matter junction due to spillover of abnormal neurons (in type IIB) | 4 / 7739 | ||||
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(OMIM) | Focal neurologic deficits | 5 / 7739 | ||||
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(OMIM) | Funnel-shaped signal tapering from subcortical white matter to ventricle (in some type IIB patients) | 4 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(OMIM) | Seizures occur multiple times per day | 4 / 7739 | ||||
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(OMIM) | MRI may be normal, especially in type IIB | 4 / 7739 | ||||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(OMIM) | Biopsy in both types shows neuronal cytomegaly (large, bizarre, maloriented neurons) in the laminar cortex | 4 / 7739 | ||||
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(OMIM) | Diffuse fibrillar astrocytosis (in type IIB) | 4 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(OMIM) | Absence of balloon cells (in type IIA) | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Cortical dysplasia of Taylor is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy usually requiring surgery. FCDT has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, ... |
Clinical Description OMIM |
Taylor et al. (1971) reported distinctive neuropathologic findings in 10 patients undergoing surgery for refractory epilepsy described as 'masses of large aberrant neurons littered apparently in chaos through all but the first molecular layer.' In 7 of the ... |
Molecular genetics OMIM |
Becker et al. (2002) did a mutation screen of the TSC1 and TSC2 (191092) genes in 48 patients with chronic focal epilepsy and histologically documented focal cortical dysplasia of Taylor type IIB. Sequence alterations (e.g., 605284.0007) resulting in ... |