Associated Papers
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
PEHO syndrome: the endpoint of different genetic epilepsies.
Chitre M et al.
Journal of Medical Genetics, 2018
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
Nahorski MS et al.
Brain : a Journal of Neurology, 2016
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