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 11 - 20 of 23 in total
Gene ID Gene Symbol Description Source
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
29954 POMT2 protein O-mannosyltransferase 2
50814 NSDHL NAD(P) dependent steroid dehydrogenase-like
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

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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