PIGA-related epileptic encephalopathy demonstrating intrafamilial phenotypic heterogeneity

Acta Neurol Belg. 2020 Oct;120(5):1247-1250. doi: 10.1007/s13760-020-01403-5. Epub 2020 Jun 19.

Authors

Peren Perk Yucel¹, Hatice Mutlu Albayrak²

Affiliations

¹ Department of Pediatric Neurology, Gaziantep Cengiz Gokcek Maternity and Children's Hospital, Sehitkamil, Gaziantep, 27010, Turkey. perkperen@gmail.com.
² Department of Pediatric Genetics, Gaziantep Cengiz Gokcek Maternity and Children's Hospital, Sehitkamil, Gaziantep, 27010, Turkey.

PMID: 32562213
DOI: 10.1007/s13760-020-01403-5

No abstract available

Keywords: Epileptic encephalopathy; PIGA; X-linked ID.

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Child
Humans
Male
Membrane Proteins / genetics*
Mutation
Pedigree
Siblings
Spasms, Infantile / genetics*
Spasms, Infantile / physiopathology*

Substances

Membrane Proteins
phosphatidylinositol glycan-class A protein

Supplementary concepts

Infantile Epileptic-Dyskinetic Encephalopathy