A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.

Yari, Abolfazl; Ali-Nejad, Reza Molla; Saleh-Gohari, Nasrollah

Yari, Abolfazl; Ali-Nejad, Reza Molla; Saleh-Gohari, Nasrollah.

Affiliation

Yari A; Department of Medical Genetics, Afzalipour Faculty of Medicine, Kerman University of Medical Sciences, Kerman, 7616914115, Iran.
Ali-Nejad RM; Student Research Committee, Afzalipour Faculty of Medicine, Kerman University of Medical Sciences, Kerman, Iran.
Saleh-Gohari N; Department of Medical Genetics, Faculty of Medicine, Jiroft University of Medical Sciences, Jiroft, Iran.

Neurol Sci ; 42(12): 5077-5085, 2021 Dec.

Article in En | MEDLINE | ID: mdl-33772352

Subject(s)

Myoclonic Epilepsies, Progressive; Renal Insufficiency; Adult; Humans; Iran; Lysosomal Membrane Proteins/genetics; Male; Mutation/genetics; Myoclonic Epilepsies, Progressive/complications; Myoclonic Epilepsies, Progressive/genetics; Pedigree; Receptors, Scavenger/genetics

Key words

Action myoclonus renal failure; EPM4; LIMB-2; Progressive myoclonus epilepsy; Renal failure; SCARB2

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Full text: 1 Database: MEDLINE Main subject: Myoclonic Epilepsies, Progressive / Renal Insufficiency Type of study: Guideline / Prognostic_studies / Risk_factors_studies Limits: Adult / Humans / Male Country/Region as subject: Asia Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2021 Type: Article Affiliation country: Iran

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