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A teenager with focal epilepsy has an MRI showing focal cortical dysplasia. His father and brother have epilepsy but normal MRIs.
AD; DEPDC5 (mTOR pathway)
- Familial focal epilepsy
- Variable penetrance
- MRI: focal cortical dysplasia in some, normal in others
- Part of GATOR1 complex (mTOR pathway) - also NPRL2, NPRL3
- Molecular testing of DEPDC5 (epilepsy gene panel or exome) in familial focal epilepsy, especially with focal cortical dysplasia
- Brain MRI to evaluate for focal cortical dysplasia; many carriers have a normal MRI
- Video EEG characterizes focal seizures and localizes the epileptogenic zone
- Reduced penetrance complicates counseling; cascade testing of relatives offered once a variant is identified (autosomal dominant)
- Antiseizure medications guided by seizure type; focal epilepsy may be drug-resistant
- Epilepsy surgery is effective when seizures localize to a resectable focal cortical dysplasia
- mTOR inhibitors (for example everolimus) are under investigation given GATOR1/mTOR pathway involvement
- Awareness of elevated SUDEP risk; monitoring and family counseling
"DEPD": Dysplasia (focal cortical dysplasia on MRI), Epilepsy, Partial (old term for focal seizures), During sleep. DEPDC5-related epilepsy characteristically presents as familial focal epilepsy, often with seizures during sleep.