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Research
Review: Current Knowledge of SLC6A1-Related Neurodevelopmental Disorders
Advances in gene discovery have identified genetic variants in the solute carrier family 6 member 1 (SLC6A1) gene as a monogenic cause of neurodevelopmental disorders, including epilepsy with myoclonic atonic seizures, autism spectrum disorder, and intellectual disability.
Research
The Path to a Cure: Improving Genetic-Based Outcomes
Dr. Heather Mefford is a current CURE Grantee who is as dedicated to driving science toward cures for epilepsy as she is to treating people in her clinical practice. As Associate Professor of Pediatrics at the University of Washington and attending physician at Seattle Children’s Hospital, Dr. Mefford is making an impact both in and out of the laboratory.
Research
Silencing ‘Poison Exon’ Eliminates Deadly Seizures in Mice
A new treatment curbs deadly seizures in a mouse model of Dravet syndrome, a severe form of epilepsy, according to a new study. A clinical trial is evaluating the drug’s safety in children with the syndrome.
Medications
Acetazolamide
Acetazolamide Acetazolamide (a SEET a ZOLE a mide) has been FDA-approved for the treatment of, along with other drugs, centrencephalic epilepsies (absence, generalized seizures). Available formulations Who should not […]
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