Focal Cortical Dysplasia, Type Ii; Fcord2

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Focal Cortical Dysplasia, Type Ii; Fcord2

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Intellectual disability, severe
  • EEG abnormality
  • Generalized tonic-clonic seizures
  • Abnormality of the cerebral white matter
  • Focal-onset seizure
  • Memory impairment
  • Hemiparesis

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Focal Cortical Dysplasia, Type Ii; Fcord2 Is also known as focal cortical dysplasia of taylor, cortical dysplasia of taylor, cdt, fcdt, fcd2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Focal Cortical Dysplasia, Type Ii; Fcord2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
67 %
TSC1 Deletion Analysis.

By Athena Diagnostics Inc (United States).

TSC1
Specificity
100 %
Genes
34 %
TSC Familial Mutation Evaluation.

By Athena Diagnostics Inc (United States).

TSC1, TSC2
Specificity
100 %
Genes
67 %
TSC1 Sequencing Test.

By Athena Diagnostics Inc (United States).

TSC1
Specificity
100 %
Genes
34 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
67 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
67 %
Complete Tuberous Sclerosis Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

TSC1, TSC2
Specificity
100 %
Genes
67 %
TSC1 CNV Test.

By Athena Diagnostics Inc (United States).

TSC1
Specificity
100 %
Genes
34 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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