Associated Papers
Modeling AP2M1 developmental and epileptic encephalopathy in Drosophila.
Karge RA et al.
Disease Models & Mechanisms, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.
Gear R et al.
American Journal of Medical Genetics. Part A, 2025
[Clinical and genetic analysis of a child with intellectual developmental disorder and seizures associated with variant of AP2M1 gene].
Chu M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
A novel de novo AP2M1 variant in a patient with attention-deficit/hyperactivity disorder, oppositional defiant disorder, and unexpected hemiplegic migraine.
Mangano GD et al.
Headache, 2025
[Autosomal dominant intellectual developmental disorder 60 with seizures: a case report].
Sun YY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2024
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli M et al.
Journal of Medical Genetics, 2022
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig I et al.
American Journal of Human Genetics, 2019
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