NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy (Q57317705)

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cites work

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Association between genetic variation of CACNA1H and childhood absence epilepsy

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Thalamocortical oscillations in a genetic model of absence seizures.

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

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Functional characterization of NIPA2, a selective Mg2 transporter

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

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Rare chromosomal deletions and duplications increase risk of schizophrenia

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Population analysis of large copy number variants and hotspots of human genetic disease

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Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

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Pharmacology of recombinant low-voltage activated calcium channels.

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

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Genome-wide allele-specific analysis: insights into regulatory variation

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Effects of changes in extracellular potassium, magnesium and calcium concentration on synaptic transmission in area CA1 and the dentate gyrus of rat hippocampal slices

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Strong association of de novo copy number mutations with autism

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

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The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

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Association between microdeletion and microduplication at 16p11.2 and autism

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Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism

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Changes in extracellular calcium and magnesium and synaptic transmission in isolated mouse spinal cord

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PubMed

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