Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.H362delFs
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SLC20A2

NM_001257180.2:p.H362delFs

Associated Papers

Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.

Yang D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40970454 (PubMed )
Supplement: supplement_1.pdf

A novel SLC20A2 mutation presenting with paroxysmal kinesigenic dyskinesia and epilepsy in a Chinese patient: a case report.

Wang L et al.

Acta Neurologica Belgica, 2023

Genetic updates on paroxysmal dyskinesias.

Liao JY et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.

Lamquet S et al.

Annals of Clinical and Translational Neurology, 2019

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients.

Ding Y et al.

Chinese Medical Journal, 2018

Brain Calcification and Movement Disorders.

Kostić VS et al.

Current Neurology and Neuroscience Reports, 2017

Primary familial brain calcification: update on molecular genetics.

Taglia I et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Lemos RR et al.

Human Mutation, 2015

[Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene].

Zhu M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015

Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

Rubino E et al.

Journal of Neurology, 2014

The genetics of primary familial brain calcifications.

Westenberger A et al.

Current Neurology and Neuroscience Reports, 2014

Familial IBGC caused by SLC20A2 mutation presenting as paroxysmal kinesigenic dyskinesia.

Zhu M et al.

Parkinsonism & Related Disorders, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."