ArticleHuman genetics2012
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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27 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.Journal of medical genetics · 2019Pooled it
- Mechanistic studies of the human NIPA2 transporter.Nature communications · 2026Article
- Congenital heart disease presentations in the 15q11.2 microdeletion syndrome.Frontiers in genetics · 2025Review
- Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.Human genomics · 2024Article
- Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.Molecular cytogenetics · 2024Article
- Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.BMC pregnancy and childbirth · 2024Article
- Genetic mechanisms in generalized epilepsies.Acta epileptologica · 2023Review
- Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.International journal of molecular sciences · 2023Review
- Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.Human genomics · 2022Article
- Prader-Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings.American journal of medical genetics. Part A · 2022Article
- Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review.Diagnostics (Basel, Switzerland) · 2021Article
- The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients.Frontiers in medicine · 2021Article
- Article
- The 15q11.2 BP1-BP2 Microdeletion (International journal of molecular sciences · 2020Review
- Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage.Biological psychiatry · 2019Article
- The absence of NIPA2 enhances neural excitability through BK (big potassium) channels.CNS neuroscience & therapeutics · 2019Article
- Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa.Journal of psychiatric research · 2019Article
- Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.Neurogenetics · 2018Article
- Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.Journal of intellectual disability research : JIDR · 2017Review
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18 authors at 6 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
While pathogenic copy number variations (CNVs) in 15q11.2 were recently identified in Caucasian patients with idiopathic generalized epilepsies (IGEs), the epilepsy-associated gene(s) in this region is/are still unknown. Our study investigated whether the CNVs in 15q11.2 are associated with childhood absence epilepsy (CAE) in Chinese patients and whether the selective magnesium transporter NIPA2 gene affected by 15q11.2 microdeletions is a susceptive gene for CAE. We assessed IGE-related CNVs by Affymetrix SNP 5.0 microarrays in 198 patients with CAE and 198 controls from northern China, and verified the identified CNVs by high-density oligonucleotide-based CGH microarrays. The coding region and exon-intron boundaries of NIPA2 were sequenced in all 380 patients with CAE and 400 controls. 15q11.2 microdeletions were detected in 3 of 198 (1.5%) patients and in no controls. Furthermore, we identified point mutations or indel in a heterozygous state of the NIPA2 gene in 3 out of 380 patients, whereas they were absent in 700 controls (P = 0.043). These mutations included two novel missense mutations (c.532A>T, p.I178F; c.731A>G, p.N244S) and one small novel insertion (c.1002_1003insGAT, p.N334_335EinsD). No NIPA2 mutation was found in 400 normal controls. We first identified that NIPA2, encoding a selective magnesium transporter, is a susceptible gene of CAE, and 15q11.2 microdeletions are important pathogenic CNVs for CAE with higher frequency in Chinese populations than that previously reported in Caucasians. The haploinsufficiency of NIPA2 may be a mechanism underlying the neurological phenotypes of 15q11.2 microdeletions.
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