Associated Papers
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E et al.
Nature Communications, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
36539902 (PubMed )
Supplement: 40246_2022_444_MOESM1_ESM.xlsx › Epilepsy_Pathogenic_variants
Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma.
Yang M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.
Isik E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.
Han C et al.
American Journal of Human Genetics, 2016
Select a paper to view details