Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646824 (PubMed )
Supplement: media-2.xlsx › Table_S6
Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.
Zhu Y et al.
Frontiers in Medicine, 2026
41728594 (PubMed )
Supplement: Data_Sheet_1.docx
Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.
Sabau IM et al.
International Journal of Molecular Sciences, 2025
40429983 (PubMed )
Supplement: ijms-26-04843-s001.zip › positive_Supplementary.xlsx › Causative_variants
KIAA2022/NEXMIF c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review.
Anastasescu CM et al.
Life (basel, Switzerland), 2025
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Sánchez-Lijarcio O et al.
Clinical Genetics, 2022
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
Mayo S et al.
International Journal of Molecular Sciences, 2021
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
Webster R et al.
Clinical Genetics, 2017
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM et al.
Journal of Medical Genetics, 2016
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
Athanasakis E et al.
American Journal of Medical Genetics. Part A, 2014
Select a paper to view details