Posts by KCNQ2 Cure
Expanded Access of Kv7.2 Channel Activators
Kv7.2 Channel Activators In many cases, KCNQ2-DEE is caused by reduced Kv7.2 potassium channel activity. Because of this, therapeutics that boost the activity of these channels are likely to be…
Read MorePromising Results from EMBOLD Study: What this Means for the KCNQ2 Community
KCNQ2 Cure Alliance attended the American Epilepsy Society (AES) meeting this week. One of the biggest pieces of news shared was positive results from a clinical trial testing a new…
Read MoreQ2 Quick Note #04: Review Article Highlights Mouse Models of KCNQ2-DEE
A new review article (an article that summarizes other articles) was published, providing an in-depth overview of mouse models with genetically altered sodium and potassium channels. What It’s About This…
Read MoreQ2 Quick Note #03: Bexicaserin Reduces Seizures in Multiple Types of DEEs
A phase 1b and 2a clinical trial tested bexicaserin in people with severe epilepsies and found early signs that the medication may help reduce seizure activity. Researchers report that the treatment was generally well tolerated, supporting continued study in future trials.
Read MoreQ2 Quick Note #02: Genetic Testing Finds Four People with KCNQ2 Variants in DEE Cohort
Researchers in Turkey used gene panels and whole exome sequencing to study the causes of developmental and epileptic encephalopathies, identifying KCNQ2 as one of the most frequently involved genes. The findings highlight the importance of early genetic testing for accurate diagnosis and care planning.
Read MoreQ2 Quick Note #01: Lived Experiences of Families Affected by KCNQ2-DEE
A new study involving 53 parents of children with KCNQ2-DEE highlights that communication challenges, cognitive delays, and daily living needs are often more burdensome than seizures. These insights help guide future treatments that focus on quality of life, not just seizure reduction.
Read MoreReflections from the Rare As One Meeting
Reflections from the Rare As One Meeting: A Joint Message from Our Executive and Scientific Directors We recently returned from an invigorating three-day convening of the Chan Zuckerberg Initiative’s Rare…
Read MoreThe Power of 10
KCNQ2 Cure 10th Anniversary: Celebrating a Decade of Progress and Community This year, KCNQ2 Cure turns 10. Double digits! We can scarcely believe it, either. We’ve come a long way.…
Read MoreHow my daughter’s medical history is a Tool Towards a CURE
My daughter Ella was only a month old when the neurologist at the third hospital she was sent to that month said, “Just go home and love her. We don’t…
Read MoreFind Your Tribe
When tragedy strikes and your world is turned upside down, how do you start to recover? Who do you turn to for advice, reassurance, support? Here, KCNQ2 mum Claire Audibert…
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