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Isolated focal cortical dysplasia type II

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Description

Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).

OMIM

  • Mode of Inheritance

  • Somatic mutation
  • Sporadic

VARIANTS

313

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Genes

External Links

  • OMIM

    607341

  • Orphanet

    268994

  • Medgen

    C1846385

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