Familial mesial temporal lobe epilepsy

Familial mesial temporal lobe epilepsy (FMTLE), also known as familial mesial temporal lobe epilepsy with hippocampal sclerosis or familial lateral temporal lobe epilepsy (though the latter is a distinct entity), is a genetic epilepsy syndrome characterized by recurrent focal seizures originating from the mesial (inner) structures of the temporal lobe, particularly the hippocampus and amygdala. It primarily affects the central nervous system. Unlike sporadic mesial temporal lobe epilepsy, FMTLE occurs in families with two or more affected members and often follows a relatively benign course. Key clinical features include focal seizures with prominent déjà vu, epigastric rising sensations, autonomic symptoms (such as nausea or flushing), fear, and other psychic or emotional auras. Some patients may experience focal seizures that evolve to bilateral tonic-clonic (generalized) convulsions. Notably, many affected family members have mild seizures that may go unrecognized or remain well controlled with standard antiepileptic medications. Hippocampal sclerosis may be present on brain MRI in some individuals, but many affected family members have normal neuroimaging. The age of onset is variable, typically ranging from adolescence to early adulthood. The genetic basis of FMTLE is heterogeneous and not fully elucidated. An autosomal dominant inheritance pattern with incomplete penetrance has been described in several families. Treatment follows standard approaches for focal epilepsy, with most patients responding well to antiepileptic drugs such as carbamazepine, oxcarbazepine, or levetiracetam. The prognosis is generally favorable compared to sporadic mesial temporal lobe epilepsy, with many patients achieving good seizure control. In refractory cases, surgical evaluation may be considered.

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