#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dominique Lessard and Dr. Dylan Verden of KIF1A.ORG summarize newly published KIF1A-related research and highlight progress in rare disease research and therapeutic development.

KIF1A-Related Research

Successful Treatment of a Child With Epileptic Encephalopathy With Spike-Wave Activation in Sleep and GRIN2A Variant Using Sulthiame

Epilepsy and seizures in KAND are complex areas. Seizures are events where neurons in a network are too active, causing a spreading electrical storm throughout the brain. To add complexity,seizures can have a wide variety of symptoms: In addition to convulsions, KAND patients may experience absence seizures that cause brief lapses in consciousness, or Continuous Spikes and Waves during Sleep (CSWS), which require overnight visits to monitor. On top of seizures, CSWS can causebehavioral issues that progress over time. It is commonly treated with combination therapies that include corticosteroids, which can cause side effects in children.

CSWS doesn’t just occur in KAND – this sleep-associated epilepsy can also be caused by mutations in the GRIN2A gene. In this week’s case report, clinicians treated a 5 year old child with GRIN2A-related CSWS, using a drug called Sulthiame. In addition to seizures, the patient had intellectual disability, issues with social interactions, and difficulties acquiring new skills. Her initial treatments were effective, but seizures came back after time and she experienced side effects due to corticosteroids.

Sulthiame works by blocking neuronal excitation, specifically blocking the proteins made by GRIN2A, and has been used in other seizure types. After a year of sulthiame treatment without corticosteroids, the patient had improved cognitive performance and no seizures.

So would this treatment be useful in KAND? It’s important to note that KIF1A and GRIN2A mutations may cause seizures by different mechanisms, and we’re not sure if sulthiame would target the correct mechanisms in KAND. But the prospect of avoiding side effects of corticosteroids is appealing. Needless to say, there’s more research to be done!

Rare Roundup

New cross-border network aims to boost Ireland’s rare disease research

For small groups like rare disease communities, borders can be a hurdle to studying and ultimately treating these diseases. To remove these hurdles and accelerate rare disease research, Ireland has created the Rare Disease Interdisciplinary Research Network (RAIN), which includes 35 organizations across the country and will include cross-border collaborations. RAIN will focus on pediatric patients and provide seminars on unmet needs in patients. These large-scale patient-centered initiatives have the potential to advance research and health services for rare disease patients.

Boston Children’s Hospital names Wendy Chung, MD, PhD, Chief of the Department of Pediatrics

Did you hear? KAND clinical champion, Dr. Wendy Chung, is headed to Boston Children’s Hospital and we are thrilled about this exciting news! We look forward to working with Dr. Chung on her KIF1A/KAND research in Boston, as she continues to be a relentless leader in our KIF1A family and the rare disease community as a whole. Congrats to our champion, Dr. Chung!

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