Abstract Details

Title An Online Survey of Caregivers of Patients with KCNQ2 Developmental & Epileptic Encephalopathy (KCNQ2-DEE)

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) S25 - Epilepsy/Clinical Neurophysiology (EEG) 2 (1:00 PM-1:12 PM)

Poster/Presentation
Number 001

Objective We conducted an online survey to understand the clinical presentation of KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE).

Background KCNQ2-DEE is an ultra-rare disorder caused by variants in the KCNQ2 gene, encoding the Kv7.2 potassium channel. KCNQ2-DEE is characterized by focal tonic seizures and severe developmental delay, which persists even when seizures are controlled. The lack of a clear understanding of the natural history of this disease makes this work of critical importance.

Design/Methods A 28-question online survey was developed to obtain de-identified data from caregivers of children with KCNQ2-DEE. It investigated demographics, seizure onset and frequency, anti-seizure medication (ASM) use, and confidence in seizure identification.

Results Seventy-one caregivers completed the survey through all of the seizure and treatment questions. Answers from cases of reported gain-of-function variants or phenotypes inconsistent with KCNQ2-DEE were excluded. Seizure onset was reported within the first 2 days of life for 90% of patients, and within the first 5 days of life for the remaining 10% of patients. At seizure onset, >50% of patients experienced >10 seizures per day; most common ASMs were phenobarbital and levetiracetam. The majority of respondents were at least 4 years of age. The current seizure frequency range from several per day to seizure freedom in 55% of the patients. The most frequent currently used ASMs were carbamazepine and oxcarbazepine. Around three quarters of caregivers reported they had received training in seizure recognition by the neurology team based on video electroencephalography, and were highly confident in identifying seizure occurrence.

Conclusions

KCNQ2-DEE imposes a significant seizure burden at disease onset. There is a significant unmet medical need that requires better treatment options. Parents/caregivers are confident in recognizing seizures and most have been trained by medical personnel using video electroencephalography-documented seizures.

Authors/Disclosures
Cynthia L. Harden, MD (Xenon Pharmaceuticals Inc) PRESENTER	Dr. Harden has received personal compensation for serving as an employee of Xenon Pharmaceuticals Inc.. Dr. Harden has stock in Xenon Pharmaceuticals Inc.. Dr. Harden has received intellectual property interests from a discovery or technology relating to health care.
Noam Butterfield, PhD (Xenon Pharmaceuticals)	Dr. Butterfield has received personal compensation for serving as an employee of Xenon Pharmaceuticals.
Celene Grayson, PhD (Xenon Pharmaceuticals Inc)	Dr. Grayson has received personal compensation for serving as an employee of Xenon Pharmaceuticals Inc.. Dr. Grayson has stock in Xenon Pharmaceuticals Inc..
Constanza Luzon	Constanza Luzon has received personal compensation for serving as an employee of Xenon Pharmaceuticals Inc.. Constanza Luzon has stock in Xenon Pharmaceuticals.
	No disclosure on file
Ernesto Aycardi, MD (Kyowa Kirin)	Dr. Aycardi has received personal compensation for serving as an employee of XENON. Dr. Aycardi has received stock or an ownership interest from XENON.
John J. Millichap, MD, FAAN (Northwestern University Feinberg School of Medicine)	Dr. Millichap has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Xenon. Dr. Millichap has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Praxis. Dr. Millichap has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biohaven. Dr. Millichap has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Praxis. Dr. Millichap has received publishing royalties from a publication relating to health care.

��ɫ��

��ɫ��