New research program for kids with rare genetic epilepsy

News and Announcements, Innovative Care, Neuroscience Research, Patient Families | February 10, 2022 | cookchildrens

Cook Children's Neurosciences Research department launched a new program in January 2022 to help children with SYNGAP-1, a rare form of genetic epilepsy.

SYNGAP1-related non-syndromic intellectual disability is a rare genetic disorder caused by a variant of the SYNGAP1 gene. The gene is located on Chromosome 6 and is responsible for producing the SYNGAP protein, which acts as a regulator in the synapses. Patients who suffer from this disorder often have intellectual disability, hypotonia, global developmental delay and epilepsy.

This new program solicits a novel exploratory idea that proposes the development of a non-invasive biomarker, which will assess the levels of gamma-aminobutyric acid (GABA) in the brain of patients with SYNGAP1.

Such a biomarker may help us better understand the pathophysiological mechanisms of GABA functional dysfunction in the brain of patients with SYNGAP1, and potentially guide the development of new therapies for children who suffer from SYNGAP and other genetic disorders. This program will be led by Christos Papadelis, Ph.D., and M. Scott Perry, M.D., and generously supported by Jeanie and Ken Huffman of Fort Worth, Texas.

Contributing staff

Christos Papadelis, PhD

Christos Papadelis, PhD
Director of Research
Neurosciences Research

Meet Dr. Papadelis

Related programs

Genetic epilepsy program, Neurosciences Research

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