Familial mesial temporal lobe epilepsy (FMTLE)

Genetics of FMTLE

• This is caused by chromosome 4 gene mutations in some families
• The transmission is complex: it is probably autosomal dominant
• The onset is in adolescence or adult age
• Some families have hippocampal sclerosis (HS)

Seizure types

Major features

Other features

Severe phenotype

Magnetic resonance imaging (MRI)

References

1. Crompton DE, Scheffer IE, Taylor I, et al. Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. Brain 2010; 133:3221-3231.
2. Striano P, Gambardella A, Coppola A, et al. Familial mesial temporal lobe epilepsy (FMTLE): A clinical and genetic study of 15 Italian families. J Neurol 2008; 255:16-23.
3. Harris RV, Oliver KL, Perucca P, et al. Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture. Ann Neurol 2023 (Online ahead of print).
4. Hedera P, Blair MA, Andermann E, et al. Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. Neurology 2007; 68:2107-2112. 
5. Perucca P, Crompton DE, Bellows ST, et al. Familial mesial temporal lobe epilepsy and the borderland of déjà vu. Ann Neurol 2017; 82:166-176.
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Related checklists

• Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS)
• Temporal lobe epilepsy with amygdala enlargement (TLE-AE)
• Autosomal dominant epilepsy with auditory features (ADEAF)
• Familial partial epilepsy with variable foci (FPEVF)
• Generalised-onset seizures with focal evolution (GOFE)
• Transient epileptic amnesia (TEA)
• Non-lesional late-onset epilepsy (NLLOE)
• MOGHE
• Geschwind syndrome