PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Am J Med Genet A
; 191(6): 1619-1625, 2023 06.
Article
in En
| MEDLINE
| ID: mdl-36905087
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Epilepsy
/
Megalencephaly
/
Hydrocephalus
/
Intellectual Disability
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2023
Document type:
Article
Affiliation country:
Estados Unidos