Long term follow up of familial mesial temporal lobe epilepsy

Abstract

OBJECTIVE: To analyze seizure outcome in individuals with familial mesial temporal lobe epilepsy (FMTLE). METHOD: We followed prospectively 64 individuals with FMTLE and 37 asymptomatic individuals belonging to 28 families. RESULTS: Patients with FMTLE had a mean follow up was 93.4 ± 15.8 months. At baseline they were divided in benign (n = 29), remission (n = 28) and refractory (n = 7). At last follow up visit 41.4% patients with benign FMTLE remained classified as benign, 20.7% became refractory and 37.9% were in remission. In the subgroup of FMTLE in remission 21 75% remained without seizures; 21.4% were classified as benign FMTLE, and one died (3.6%) from cause unrelated to epilepsy. All refractory patients remained refractory. From the asymptomatic group, 10.8% became symptomatic (FMTLE). The mean follow up was 76.0 ± 21.2 months. CONCLUSION: Prospective follow up of more than 7 years in patients with FMTLE revealed that it is unlikely to achieve seizure control in those with refractory seizures. Patients with diagnose of more benign forms of FMTLE for more than one year are likely to either remit or remain under well controlled seizures. The majority of patients who had achieved seizure remission remained seizure-free and none became refractory. Asymptomatic individuals had a greater probability to have seizures compared to the general population in a 6 year period of follow up.

The “Natural” History of Medically Treated Temporal Lobe Epilepsy: What Can an Evidence-Based Approach Tell Us?

“…At the end of a mean of 7.8 years followup (standard deviation of ±1.3 years), 50% of participants had achieved seizure freedom for two or more years. However, none of the patients who started the study with medically refractory epilepsy achieved seizure remission by the end of followup [ 9 ]. As expected, symptomatic family members appeared more likely to develop epilepsy (11%) than those from the general population.…”

“…We did not identify any population-based studies recruiting all incident cases of temporal lobe epilepsy over the whole life span. Our extracted information was limited to few studies, including a prospective, population-based study on childhood-onset temporal lobe epilepsy [ 5 ] or those where TLE was a subgroup of population-based cohorts of focal epilepsies [ 6 – 9 ]. Information on imaging protocols was poor and MRI data were often lacking.…”

“…Only 31% of individuals were able to achieve a minimum of two-year seizure freedom off AEDs over a median follow-up period of 13.7 years [ 5 ], compared to 49% of TLE patients in a prospective, population-based study of focal epilepsies [ 6 ] and 41% of a subgroup of TLE patients in 1448 cases of epileptic and febrile seizures in the Rochester Study [ 7 ]. Familial “benign” mTLE had only a slighter better prognosis with 50% of participants achieving seizure freedom for >2 years [ 9 ]. All patients who failed initial AED therapy remained refractory to medical therapy throughout [ 9 ].…”

“…Familial “benign” mTLE had only a slighter better prognosis with 50% of participants achieving seizure freedom for >2 years [ 9 ]. All patients who failed initial AED therapy remained refractory to medical therapy throughout [ 9 ]. This finding is in keeping with a retrospective study in childhood temporal lobe epilepsy, in which failure of the first AED was the strongest predictor for outcome [ 16 ].…”

Gene expression profile suggests different mechanisms underlying sporadic and familial mesial temporal lobe epilepsy

“…35,46 Family history of epilepsy was considered positive when the patient had at least two first-or second-degree relatives with MTLE, as defined by diagnostic criteria proposed previously and accepted by the literature in the field of epilepsy and by the International League Against epilepsy. 2,3,7,[21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38]45 None of the patients included in the present study had any generalized or complex partial seizures documented 48 h before or during epilepsy surgery. This project was approved by the Research Ethics Committee of the University of Campinas (ethics approval # CAAE: 12112913.3.0000.5404), and all patients signed a consent form to donate part of the surgical tissue to research.…”