Associated Papers
Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.
Lehtonen J et al.
Human Molecular Genetics, 2025
A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants.
Papuc SM et al.
Italian Journal of Pediatrics, 2024
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Issa MY et al.
American Journal of Medical Genetics. Part A, 2024
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.
Abdulkareem AA et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
Nahorski MS et al.
Brain : a Journal of Neurology, 2016
Select a paper to view details