Hossein Darvish - Genetic Mutations

Author Information

Hossein Darvish is affiliated with the Cancer Research Center at Semnan University of Medical Sciences in Semnan, Iran. Additionally, he is part of the Department of Medical Genetics at the same institution. His research primarily focuses on genetics, with an emphasis on neurodevelopmental disorders, epilepsy, and other genetic conditions.

Research Contributions

Hossein Darvish has made significant contributions to the field of genetics, particularly in understanding the genetic underpinnings of various neurodevelopmental disorders and epilepsy. His recent work includes identifying bi-allelic variants in the CHKA gene that cause a neurodevelopmental disorder with epilepsy and microcephaly, as well as linking a Leu226Trp CACNA1A variant with juvenile myoclonic epilepsy. His research also extends to systemic lupus erythematosus, intellectual disability, spastic cerebral palsy, and hereditary spastic paraplegia. Notably, he has investigated the role of PRDM12 in nociceptor function and the anti-inflammatory properties of ANXA1 in relation to parkinsonism.

Aliases

Hossein Darvish is also known by the aliases H Darvish and H. Darvish.

Publication and Citation Metrics

Metric	Value
Total Citations	2685
h-index	24
Number of Papers	124

Publications:

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.

DOI: 10.1093/brain/awac074

Year: 2022

Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability

DOI: 10.1016/j.clineuro.2021.107108

Year: 2022

Three functional variants in the NLRP3 gene are associated with susceptibility and clinical characteristics of systemic lupus erythematosus

DOI: 10.1177/09612033211014273

Year: 2021

Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy

DOI: 10.1212/NXG.0000000000000583

Year: 2021

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

DOI: 10.1038/s41525-021-00255-z

Year: 2021

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

DOI: 10.1093/brain/awab041

Year: 2021

PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life

DOI: 10.3389/fnmol.2021.720973

Year: 2021

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

DOI: 10.1093/brain/awab193

Year: 2021

The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.

DOI: 10.1016/j.ejpn.2021.10.011

Year: 2021

ANXA1 with Anti‐Inflammatory Properties Might Contribute to Parkinsonism

DOI: 10.1002/ana.26148

Year: 2021

What are the Ethical Concerns?

What Are the Consequences of Translocations?

What are the Common Hemoglobin Variants Detected?

What is the Role of Epigenetics?

How Does Genetic Research Impact Medicine?

How Does Genetic Testing Inform Cancer Treatment?

What is the Mechanism of Action of TKIs?

What Future Research is Needed?

How can inherited genetic mutations be prevented?

What Ethical Considerations Arise From Genetic Research?

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