Solute Carrier 45A1: A New Cerebral Glucose Transporter Brain Disorder with Focal Refractory Epilepsy Responsive to Ketogenic Diet and Acetazolamide.

Solute carrier family 45 member A1 (SLC45A1) is a glucose brain transporter predominantly expressed in the developing and adult brain, including the cortex and cerebellum. Pathogenic variants in have been described in four patients from two unrelated families with dysmorphic features, intellectual disability, and focal epilepsy. We describe the fifth patient, presenting with focal refractory epilepsy responsive to ketogenic diet (KD) and acetazolamide.

Clinical trial knowledge in families of children with epilepsy. A survey from a French Center for Rare Epilepsies.

Clinical trials are essential to the development of innovative treatments. Many patients and families have limited knowledge of biomedical research. This study aimed to determine whether families of children with epilepsy were interested in learning more about biomedical research, what specific trial-related topics they wanted to know more about, and how they preferred to receive this information.