Associated Papers
A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures.
Marin R et al.
Seizure, 2025
A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review.
Ye Y et al.
Frontiers in Pediatrics, 2022
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
Voet J et al.
American Journal of Medical Genetics. Part A, 2020
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