Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review-Reference-Cited by-同舟云学术

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Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review

Published:2018-04 Issue: Volume:57 Page:80-86
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Tian Wo-Tu^ORCID,Liu Xiao-Li,Xu Yang-Qi,Huang Xiao-Jun,Zhou Hai-Yan,Wang Ying,Tang Hui-Dong,Chen Sheng-Di,Luan Xing-Hua,Cao Li

Funder

National Natural Science Foundation of China

Shanghai Municipal Education Commission-Gaofeng Clinical Medicine Grant Support

Interdisciplinary Project of Shanghai Jiao Tong University

Research Fund for the Doctoral Program of Higher Education

Natural Science Foundation of Science and Technology of Shanghai

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology,General Medicine

Reference24 articles.

1. Progressive myoclonus epilepsies: specific causes and diagnosis;Berkovic;N Engl J Med,1986

2. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects;Shahwan;Lancet Neurol,2005

3. Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder;Badhwar;Brain,2004

4. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis;Berkovic;Am J Hum Genet,2008

5. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure;Dibbens;Ann Neurol,2009

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1. Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions;International Journal of Molecular Sciences;2024-06-16

2. Gut dysbiosis impairs intestinal renewal and lipid absorption in Scarb2 deficiency-associated neurodegeneration;Protein & Cell;2024-04-18

3. Action Myoclonus-Renal Failure Syndrome: Case Report with Bioinformatic Annotations;Cureus;2023-07-01

4. Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency;Communications Biology;2023-05-25

5. Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review;BMC Neurology;2022-03-28

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