A Single Tertiary Center Phenotypic Characterization of Adult Patients with Genetic Epilepsies
Abstract number :
1.118
Submission category :
12. Genetics / 12A. Human Studies
Year :
2024
Submission ID :
1217
Source :
www.aesnet.org
Presentation date :
12/7/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Eskedar Ayele Angamo, MD.PhD – The University of Texas Health Science Center at Houston, TX
Emile Moura Coelho da Silva, MSc – The University of Texas Health Science Center at Houston, TX
Tobias Bruenger, PhD – University of Texas Health Science Center at Houston
Gary Taylor, BS – The University of Texas Health Science Center at Houston, TX
Ludovica Montanucci, PhD – The University of Texas Health Science Center at Houston, TX
Costin Leu, PhD – University of Texas Health Science Center at Houston
Alison Merket, BS – The University of Texas Health Science Center at Houston, TX
Anu Cherukara, BS – The University of Texas Health Science Center at Houston, TX
Mousimi Sinha, MSc – The University of Texas Health Science Center at Houston, TX
Rahil Tai, MD, MBA – The University of Texas Health Science Center at Houston, TX
Gretchen Von Allmen, MD – McGovern Medical School, The University of Texas Health Science Center at Houston
Samden Lhatoo, MD, FRCP – University of Texas Health Science Center at Houston
Dennis Lal, PhD – University of Texas Health Science Center at Houston
Rationale: Clinical genetic testing is recommended for all people with an unexplained epilepsy. Although the phenotypic spectrum of monogenic epilepsies is well characterized in children, there is limited information in adults. In this single-center retrospective study, we characterized the genetic, electroclinical, and imaging findings of adult epilepsy patients with a likely pathogenic or pathogenic variant.
Methods: We performed retrospective chart review at the UTHealth Houston for electroclinical and imaging finding of adult epilepsy patients with pathogenic and likely pathogenic variant identified through clinical genetic testing. Patients with incidental gene mutations and those lost to follow-up were excluded from the study.
Results: A total of 47 patients with epilepsy and pathogenic/likely pathogenic epilepsy associated variants were included in the study. The mean age of the patients at time of chart review was 25.4 ± 1.3 (Mean ± SEM). Intellectual disability and/or developmental delay was noted in 61.7 % (N=29/47) and autism spectrum disorder as well as other behavioral issues in 57.4 % (N=27/47) of the patients. The patients could be categorized into three groups based on their clinical and EEG findings: 57.4% as developmental and epileptic encephalopathy (DEE, N=27/47), 25.6% as genetic generalized epilepsy (GGE, N=12/47), and 17.0% as focal epilepsy (FE, N=8). The vast majority of adults with DEE (96.3%) were still on two or more anti-epileptic medications, compared to only 13.3% of adult patients with GGE at their last visit. Notably, 15.0 % of DEE patients and 58.3 % of GGE patients were reportedly seizure free for 2 or more years. MRI or CT structural abnormalities were seen in 41.0% of the DEE and 42.8% of the FE groups. The most frequently observed gene variants included SCN1A and SCN2A in DEE patients and POLG and ANKRD11 in GGE patients.
Conclusions: The frequency of seizure has decreased in considerable number of patients in both DEE and GGE groups. Nevertheless, most of the DEE patients remain on multiple AEDs and has poor baseline functional status.
Funding: None
Genetics