Somatic genetic epilepsies arise from mutations that occur early in fetal development. They are usually only detectable by genetic sequencing of tissue. For these epilepsies, the timing of the mutation is key: For example, research has shown that focal cortical dysplasia type IIB and hemimegaloencephaly are genetically the same disease, but arise from somatic mutations at different developmental time points. This relatively new area of research is discussed by Dr. Alina Ivaniuk and Dr. Christian Bosselmann.
Resources:
Analysis of 1,386 epileptogenic brain lesions reveals association with DYRK1A and EGFR (Nature Communications 2024 - C. Bosselmann et al.)
Neocortical development and epilepsy: Insights from focal cortical dysplasia and brain tumours (The Lancet Neurology 2021 - I. Blumcke et al.)
Contribution of somatic Ras/Raf/Mitogen-activated protein kinase variants in the hippocampus in drug-resistant mesial temporal lobe epilepsy (JAMA Neurology 2023 - S. Khoshkhoo et al.)
Somatic mosaicism and neurodevelopmental disease (Nature Neuroscience 2018 - AM D'Gama and CA Walsh)
BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors (Nature Medicine 2018 - HY Koh et al.)
SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics (Brain 2025 - D Lai et al.)
Precise detection of low-level somatic mutation in resected epilepsy brain tissue (Acta Neuropathologica 2019 - NS Sim et al.)
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial (Epilepsia 2021 - I Blumcke et al.)
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: A retrospective multicentre cohort study (The Lancet Neurology 2020 - HJ Lamberink et al.)
Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.
Let us know how we're doing: podcast@ilae.org.
The International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.
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