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ORIGINAL RESEARCH article

Front. Genet.
Sec. Applied Genetic Epidemiology
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1496683
This article is part of the Research Topic Beyond Mutation: Exploring the Molecular Genetics and Pathomechanisms of Mendelian Disorders View all articles

De novo SCN1A missense variant in a patient with Parkinson's disease

Provisionally accepted
Sulman Basit Sulman Basit *MAJED ALLUQMANI MAJED ALLUQMANI Jamil Hashmi Jamil Hashmi
  • Taibah University, Medina, Saudi Arabia

The final, formatted version of the article will be published soon.

    Background: Variants in a gene encoding Sodium Voltage-Gated Channel, Alpha Subunit 1 (SCN1A) are known to cause broad clinical spectrum of epilepsy and associated features including Dravet syndrome (MIM 607208), non-Dravet developmental and epileptic encephalopathy (MIM 619317), familial febrile seizures (MIM 604403), familial hemiplegic migraine (MIM 609634), and generalized epilepsy with febrile seizures (MIM 604403).Methods: In this study, we examined a patient with Parkinson's disease without any clinical manifestations of epilepsy and associated features. Genomic nucleic acid was extracted and complete coding sequence of the human genome (whole exome sequencing) was sequenced.Moreover, Sanger sequence of variants of interest was performed to validate the exome discovered variants.Results: We identified a heterozygous pathogenic missense mutation (c.1498C>T; p.Arg500Trp) in the SCN1A gene in patient using whole exome sequencing approach. The onset of Parkinson's disease features in our patient occurred at the age of 30 years. Biochemical investigations were carried out to rule out any secondary cause of the disease including Wilson or another metabolic disorder. MRI of the brain and spine images were unremarkable.Moreover, a dramatic response to Carbidopa-Levodopa treatment was also observed in the patient.Our results suggest that pathogenic variant in SCN1A may lead to Parkinson's disease features without epilepsy.

    Keywords: Parkinson's disease, SCN1A gene, Mutation, exome sequencing, No epilepsy

    Received: 15 Sep 2024; Accepted: 16 Oct 2024.

    Copyright: © 2024 Basit, ALLUQMANI and Hashmi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Sulman Basit, Taibah University, Medina, Saudi Arabia

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