prrt2-related Epilepsy from Self-limited Epilepsy in Infancy to Atypical Epilepsy Phenotypes
Abstract number :
3.124
Submission category :
12. Genetics / 12A. Human Studies
Year :
2024
Submission ID :
95
Source :
www.aesnet.org
Presentation date :
12/9/2024 12:00:00 AM
Published date :
Authors :
Madeline Komar, BSc – McMaster University
Jashanpreet Sidhu, BSc – The Hospital for Sick Children
Sonali Singh, MD, DM – The Hospital for Sick Children
Ronit Mesterman, MD – McMaster University
David Callen, MD, PhD – McMaster University
Kevin Jones, MD – McMaster University
Rajesh Ramachandran Nair, MD – McMaster University
Lyndsey McRae, NP-PHC – The Hospital for Sick Children
Vann Chau, MD – The Hospital for Sick Children
Joseph Jiju, MD – Christian Medical College Vellore
Maya Matthew, MD – Christian Medical College Vellore
Sangeetha Yoganathan, MD – Christian Medical College Vellore
Puneet Jain, MD – The Hospital for Sick Children
Presenting Author: Robyn Whitney, MD – McMaster University
Rationale: Pathogenic variants in the PRRT2 gene cause self-limited infantile epilepsy (SeLIE). Recently, atypical epilepsy phenotypes have been described. We report an additional cohort of PRRT2-related epilepsy/seizures and highlight commonalities to previous descriptions and atypical features of the condition.
Methods: A retrospective review was completed and details related to the epilepsy history, comorbidities, genetic results, electroencephalogram (EEG)/neuroimaging findings and treatments tried are summarized.
Results: Twelve cases of epilepsy/seizures related to pathogenic PRRT2 variants were identified. Seven children (58%) were males. Median age at seizure onset was 5 months (IQR 4,6), range 3-96 months. The most common seizure types were bilateral tonic-clonic (n=7, 58%), focal motor seizures with impaired awareness (n=4, 33%), and focal motor seizures with impaired awareness evolving to bilateral tonic clonic seizures (n=2, 17%). SeLIE was the most common epilepsy syndrome (n=11, 92%). One child evolved from SeLIE to infantile epileptic spasms epilepsy syndrome (IESS). Another child who presented with SeLIE later developed the EEG findings of spike wave activation in sleep but had no neurocognitive decline. Refractory genetic generalized epilepsy was diagnosed in one child. The median age of seizure freedom was 11 months (IQR 5, 19). Seizures continued after the age of three years in two children with SeLIE.
Conclusions: Pathogenic PRRT2 variants are often associated with a SeLIE phenotype, although atypical features may occur in some with the persistence of seizures into childhood or the development of additional epilepsy phenotypes in others.
Funding: None.
Genetics