Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

Jóźwiak, Sergiusz; Kotulska, Katarzyna; Domańska-Pakieła, Dorota; Łojszczyk, Barbara; Syczewska, Małgorzata; Chmielewski, Dariusz; Dunin-Wąsowicz, Dorota; Kmieć, Tomasz; Szymkiewicz–Dangel, Joanna; Kornacka, Maria; Kawalec, Wanda; Kuczyński, Dariusz; Borkowska, Julita; Tomaszek, Katarzyna; Jurkiewicz, Elżbieta; Respondek-Liberska, Maria

doi:10.1016/j.ejpn.2011.03.010

Cited by 270 publications

(254 citation statements)

References 26 publications

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“…According to Camifield, normal intellectual development is fundamental for good prognosis in epilepsy [26]. It has also been confirmed that a long-lasting persistence of epileptic seizures and occurrence of status epilepticus affects intellectual development [27][28][29][30][31][32].…”

Section: Discussionmentioning

confidence: 99%

Assessment of clinical risk factors for drug-resistant epilepsy in children and teenagers

Kasprzyk¹,

Brola²,

Wendorff³

2014

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Introduction: Epilepsy is one of the most common neurological illnesses occurring in children. In approximately 20-30% of cases it is drug-resistant. Aim of the research: To assess the already-known risk factors, analyse the rarely described ones, and find new causes of epilepsy drug resistance in children, taking into account the level of impact of each factor. Material and methods:The study comprised 152 of all 383 children hospitalised in 2012 at the Neurology Department of the Polish Mother's Memorial Hospital in Lodz due to epilepsy. Based on medical documentation, neurological examination, and our own questionnaire, we divided patients into two groups: drug-resistant epilepsy or drug-sensitive epilepsy. We compared the type, level of influence, and prevalence of different factors. For statistical analysis, the χ 2 test was used. Statistical significance was set at p < 0.05. Results: Drug-resistant epilepsy was found in 64 patients (42.1%), and drug-sensitive epilepsy was found in 88 patients (57.9%). Factors that were most probable to cause drug resistance included: high prevalence of seizures (Cramer's V = 0.66), type of epileptic syndrome (V = 0.62), psychomotor developmental delay (V = 0.62), and occurrence of status epilepticus (V = 0.6). Factors such as infections of CNS in early childhood, repeated severe infections of airways in childhood, and mother's infectious diseases with high fever during pregnancy were rare or non occurring (Cramer's V = 0.41, 0.32, and 0.31, respectively). Conclusions: The study confirmed the previously known causes of drug resistance and indicated the significance of underestimated inflammatory and infectious factors involving pyrexia, in children and also in mothers during pregnancy.

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Section: Discussionmentioning

confidence: 99%

Assessment of clinical risk factors for drug-resistant epilepsy in children and teenagers

Kasprzyk¹,

Brola²,

Wendorff³

2014

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“…Recent studies have shown that earlier treatment initiation with the anticonvulsant vigabatrin for infantile spasms, even before onset of clinical seizures, may favor improved clinical outcome in TSC. 24,25 Similarly, earlier initiation of everolimus in TSC could be of greater benefit than waiting until clinical seizures emerge and epileptogenic processes have progressed to the point of irreversibility and intractability. Potential age-dependent effects also might explain why when everolimus was evaluated in 117 patients aged 0-65 years for the treatment of SEGA, no seizure benefit could be detected, 3 but in a subanalysis of participants under 3 years of age, seizure prevention (3/8) or reduction in seizure frequency .50% (3/8) was reported in the majority of participants.…”

Section: Classification Of Evidence This Interventional Study Providesmentioning

confidence: 99%

Long-term treatment of epilepsy with everolimus in tuberous sclerosis

et al. 2016

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Objective: To evaluate the long-term benefit and safety of everolimus for the treatment of medically refractory epilepsy in patients with tuberous sclerosis complex (TSC).Methods: Everolimus was titrated over 4 weeks and continued an additional 8 weeks in a prospective, open-label, phase I/II clinical trial design. Participants demonstrating initial benefit continued treatment until study completion (48 months). The primary endpoint was percentage of patients with a $50% reduction in seizure frequency compared to baseline. Secondary endpoints assessed absolute seizure frequency, adverse events (AEs), behavior, and quality of life.Results: Of the 20 participants who completed the initial study phase, 18 continued extended treatment. Fourteen of 18 (78%) participants completed the study, all but 1 of whom reported $50% reduction in seizure frequency at 48 months. All participants reported at least 1 AE, the vast majority (94%) of which were graded mild or moderate severity. Improvements in behavior and quality of life were also observed, but failed to achieve statistical significance at 48 months.Conclusions: Improved seizure control was maintained for 4 years in the majority of patients with TSC with medically refractory epilepsy treated with everolimus. Long-term treatment with everolimus is safe and well-tolerated in this population. Everolimus may be a therapeutic option for refractory epilepsy in TSC. More than 80% of individuals with tuberous sclerosis complex (TSC) develop epilepsy, usually within the first year of life.1 Epilepsy in an estimated third of these individuals is refractory to conventional anticonvulsant medications, 2 heightening the urgency for development of effective treatments. TSC1 and TSC2, the causative genes for TSC, regulate the protein kinase mammalian target of rapamycin complex 1 (mTORC1). Pharmacologic inhibitors of mTORC1 are now approved to treat multiple clinical aspects of TSC, including subependymal giant cell astrocytomas (SEGA), 3,4 renal angiomyolipomas, 5 and pulmonary lymphangioleiomyomatosis. 6 mTORC1 inhibitors also have been reported to be effective for treatment of topical angiofibromas and cardiac rhabdomyomas in TSC. 7,8 Preclinical studies in TSC mouse models demonstrate that mTORC1 inhibitors effectively prevent seizures.9,10 TSC patients in early (open-label) clinical trials to treat SEGA with everolimus reported reduced frequency of daily seizures and increased rates of seizure freedom, 4,[11][12][13] but seizure benefit could not be demonstrated in more recent (placebo-controlled, randomized) From the Departments of Pediatrics and Neurology

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“…Обычно приступы развиваются вскоре после появления эпилептиформ-ной активности, поэтому «окно», в течение которого возможно профилактическое вмешательство, неве-лико. Существуют данные зарубежных исследований, свидетельствующие о том, что если пациенты 1-го года жизни, еще не страдающие эпилепсией, но уже имеющие эпилептиформные разряды на ЭЭГ, полу-чают превентивную антиэпилептическую терапию, фармакорезистентная эпилепсия у них не развивает-ся и в дальнейшем эти дети не страдают умственной отсталостью [13]. В исследование R. Cusmai и соавт.…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

“…В открытом исследовании S. Józẃiak и соавт. (2011) назначение антиэпилепти-ческого препарата (АЭП) вигабатрина детям младен-ческого возраста с мультифокальной активностью на ЭЭГ до начала приступов приводило через 2 года к увеличению числа пациентов без эпилепсии, умень-шению числа пациентов с рефрактерной эпилепсией и нуждающихся в политерапии [13].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

Preventive Antiepileptic Therapy in Patients With Tuberous Sclerosis

Григорьева¹,

Дорофеева²,

Gorchkhanova³

et al. 2017

Rus. ž. det. nevrol.

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Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

Abstract: Preventative antiepileptic treatment of infants with tuberous sclerosis complex and high risk of epilepsy markedly improves their neurodevelopmental outcome and reduces the incidence of drug-resistant seizures.

Cited by 270 publications

References 26 publications

Assessment of clinical risk factors for drug-resistant epilepsy in children and teenagers

Assessment of clinical risk factors for drug-resistant epilepsy in children and teenagers

Long-term treatment of epilepsy with everolimus in tuberous sclerosis

Preventive Antiepileptic Therapy in Patients With Tuberous Sclerosis

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