Neurol Disord Stroke Int | Volume 2, Issue 2 | Research Article | Open Access

The Role of Genetic Mutations in Genes MLC1 & HEPACAM in Van der Knaap Syndrome

Shahin Asadi^*, Samira Sattari, Mahsa Jamali, Soheil Nemati Arzeloo and Mona Habashizadeh

Department of Molecular Genetics, Tabriz University of Medical Sciences, Iran

^*Correspondance to: Shahin Asadi 

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Abstract

People with this syndrome also have Leukoencephalopathy, which is a white-matter brain disorder. White matter contains nerve fibers that are covered by a fatty substance called myelin. Myelin insulates the nerve fibers and promptly transmits nerve fibers. More than half of the people with this condition have recurrent seizures (epilepsy). Despite the wide range of brain disorders, people with this condition usually have mild to moderate intellectual disabilities. The mutation in the MLC1 gene, which is based on the long arm of chromosome number 22, is 22q13.33, leading to van der Knaap syndrome in the type 1 neoplasm. This forms 75% of all cases.

Keywords:

Van der knaap syndrome; Genetics mutations; MLC1; HEPACAM genes; Astroglial cells

Citation:

Asadi S, Sattari S, Jamali M, Nemati Arzeloo S, Habashizadeh M. The Role of Genetic Mutations in Genes MLC1 & HEPACAM in Van der Knaap Syndrome. Neurol Disord Stroke Int. 2019; 2(2): 1018.