Phenotype and Genotype of Children with ALS2 gene-Related Disorder
<i>ALS2</i> mutation results in rare neurodegenerative disorders with the clinical spectrum encompassing IAHSP, JPLS, and JALS disorders. In view of allelic heterogeneity described in the literature, more research studies are needed for establishing genotype-phenotype correlation in patients with <i>ALS2</i> gene-related disorder.
Authors
- Rekha Aaron (ORCID: https://orcid.org/0000-0002-6376-8071)
- Sangeetha Yoganathan (ORCID: https://orcid.org/0009-0001-1429-8392)
- Sumita Danda (ORCID: https://orcid.org/0000-0001-8973-370X)
- Madhan Kumar (ORCID: https://orcid.org/0000-0002-0435-8902)
- Samuel Philip Oommen (ORCID: https://orcid.org/0009-0008-0488-273X)
- Maya Thomas (ORCID: https://orcid.org/0000-0002-1883-4631)
- Shankar Rangan
- Bidkar Sayli Umakant
Institutions
- Christian Medical College, Vellore (IN)
- Christian Medical College (IN)
Publication Details
- Journal
- Neuropediatrics
- Published
- 2024-10-18
- DOI
- https://doi.org/10.1055/s-0044-1791256
- Citations
- 2
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.74