cortical dysplasia-focal epilepsy syndrome

Summary
Synonym
  • CDFE syndrome
  • CDFES
  • PTHSL1
  • Pitt-Hopkins-like syndrome-1
Definition
A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36.
Super Class
autosomal recessive disease brain disease
External Links
Disease Ontology
DOID:0090130
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 23 in total
Gene ID Gene Symbol Description Source
523 ATP6V1A ATPase H+ transporting V1 subunit A
1605 DAG1 dystroglycan 1
1718 DHCR24 24-dehydrocholesterol reductase
1743 DLST dihydrolipoamide S-succinyltransferase
2218 FKTN fukutin
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10329 RXYLT1 ribitol xylosyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024