Epilepsy Genetics & Channelopathy
A 30-slide clinical learning module · Ion channels, precision medicine, and cases
Slide 1 of 303% complete
Module Outline
🧬 Part 1
⚡ Part 2
🔋 Part 3
🧲 Part 4
🔬 Part 5
💊 Part 6
📋 Part 7
Slide 1/30
🧬 Part 1: Foundations of Epilepsy Genetics
Why Genetics Matters in Epilepsy
- 1Epilepsy affects ~50 million people worldwide. Up to 30–40% of epilepsy has a primarily genetic basis.
- 2Genetic forms are especially prevalent in early-onset and drug-resistant epilepsy — whole-exome sequencing yields a molecular diagnosis in ~40% of unexplained early-onset cases.
- 3De novo variants are the dominant mechanism in severe epileptic encephalopathies; inherited variants underlie familial epilepsy syndromes.
- 4Identifying the causative gene has direct clinical consequences: it guides medication choice, predicts prognosis, enables family counselling, and opens precision therapy pathways.
- 5The DEE (Developmental and Epileptic Encephalopathy) spectrum includes >800 known monogenic causes — the largest group of which are ion channel genes.
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Clinical Pearl
Genetic testing is now guideline-recommended as a first-line investigation in unexplained infantile-onset seizures, not just after excluding structural causes.
Scheffer IE et al. — Epilepsia, 2017 (ILAE classification); EpiPM Consortium — Nat Rev Neurol, 2015