Refractory focal epilepsy in a paediatric patient with primary familial brain calcification-Reference-Cited by-同舟云学术

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Refractory focal epilepsy in a paediatric patient with primary familial brain calcification

Published:2018-03 Issue: Volume:56 Page:50-52
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Knowles Juliet K.,Santoro Jonathan D.,Porter Brenda E.,Baumer Fiona M.

Funder

NIH KL2 TR

UL1 TR

Research and Training Grant for Clinicians

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference4 articles.

1. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export;Legati;Nat Genet,2015

2. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification;Nicolas;Brain,2013

3. Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2;Fjaer;Eur J Med Genet,2015

4. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects;Meisler;J Physiol,2010

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Genetics of Primary Familial Brain Calcification: A Literature Review;International Journal of Molecular Sciences;2023-06-29

2. Identifying Novel Drug Targets for Epilepsy Through a Brain Transcriptome-Wide Association Study and Protein-Wide Association Study with Chemical-Gene-Interaction Analysis;Molecular Neurobiology;2023-05-29

3. Brain Calcifications: Genetic, Molecular, and Clinical Aspects;International Journal of Molecular Sciences;2023-05-19

4. A novel SLC20A2 mutation presenting with paroxysmal kinesigenic dyskinesia and epilepsy in a Chinese patient: a case report;Acta Neurologica Belgica;2023-01-26

5. Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl;Molecular Genetics & Genomic Medicine;2021-04

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