Rare Disease Report

NORD Publishes First Summary for Syngap1-Related NSID

SEPTEMBER 22, 2015
Monica Weldon
Bridge the Gap – SYNGAP Education and Research Foundation are excited to announce that Jacques Michaud, MD, PhD and  Gavin Rumbaugh, PhD from our Medical Advisory Board and Thomas Creson, PhD from Florida Scripps Labs, have written a collective summary on SYNGAP1-related non-syndromic intellectual disability (NSID).
We are honored to have this summary published in the NORD database (National Organization of Rare Disorders).

This information will be an important resource for clinicians, researchers and parents looking for answers to a possible diagnoses of Global Developmental Delay, Intellectual Disability and Epilepsy. This paper provides a detailed summary of signs and symptoms, causes, standard therapies and treatments and investigational treatments on SYNGAP1 mutations.
SYNGAP1 is a rare non-syndromic neurological disorder that causes intellectual disability. Approximately two-thirds of individuals with SYNGAP1 mutations suffer from some type of epileptic encephalopathies. In recent findings SYNGAP1 has been a gene linked to autism.  The percentage is unknown of how many of these individuals have been diagnosed with Autism. Several mutations in the SYNGAP1 gene were identified as the cause of intellectual disability.
Link to NORD Paper:

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