Epileptic spasms in tuberous sclerosis complex

Hsieh, David T.; Jennesson, Mélanie; Thiele, Elizabeth A.

doi:10.1016/j.eplepsyres.2013.05.003

Cited by 24 publications

(20 citation statements)

References 38 publications

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“…It is thought that tuber/hamartoma development requires “two hits,” whereby a germline mutation in one allele of TSC1 or TSC2 is complemented by a second somatic mutation in the other allele, leading to cell growth derangement and hamartoma formation (38). Overall, TSC2 mutations confer worse seizures and cognition than TSC1 mutations (20, 39, 40). …”

Section: Tuberous Sclerosis Complexmentioning

confidence: 95%

“…The incidence of infantile spasms is extremely high, affecting approximately one-third of children with TSC (18, 19). In about 5% of children with TSC, spasms continue or develop after 2 years of age, making this a very common semiology (20). With multiple tubers comprising potential seizure foci, it is not surprising that focal or multifocal seizures are present in TSC, but the frequent occurrence of infantile spasms has not been explained adequately.…”

Section: Tuberous Sclerosis Complexmentioning

confidence: 99%

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Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome

2017

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Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge–Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders. Potential routes for target-specific treatments are emerging as the genetic and molecular pathways involved in neurocutaneous disorders become increasingly understood. This review explores the clinical features and mechanisms of epilepsy in three common neurocutaneous disorders—TSC, neurofibromatosis type 1, and SWS.

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Section: Tuberous Sclerosis Complexmentioning

confidence: 95%

Section: Tuberous Sclerosis Complexmentioning

confidence: 99%

Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome

2017

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“…[12] Vigabatrin özellikle tubero skleroz ile ilişkili West sendromunda gündemdedir. [13] Otozomal dominant nokturnal frontal lob epilepsisinde CBZ'nin etkisi nikotinik asetil kolin reseptörle-ri üzerinde olmaktadır ve patofizyolojik olarak AEİ seçimine iyi bir örnektir. [14] mTOR ("mechanistic target of rapamycin"-rapamisinin mekanik hedefi) inhibitörlerinin tubero sklerozlu epilepsili olgularda etkisi son yıllarda vurgulanmaya başlamıştır.…”

Section: Discussionunclassified

The role of focal versus generalized epilepsy classification and EEG features on antiepileptic drug choice

Yenı¹

2015

Epilepsi

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SummaryObjectives: The findings of focal interictal EEG are frequently emphasized in idiopathic generalized epilepsies. To avoid seizure aggravation, drugs such as carbamazepine (CBZ) should not be used in this group of patients. However, the reverse may also occur: In some epilepsy patients, there is a dramatic response to CBZ even with EEG activity revealing generalized spike and wave discharges. In this study, 8 patients with generalized spike and wave discharges presenting on interictal EEG and will be discussed on the basis of their treatment response to carbamazepine. Methods: Data were retrospectively collected on 8 patients presenting generalized spike and multiple spike and wave discharges on EEG and experiencing generalized tonic clonic seizures who responded to carbamazepine and/or oxcarbazepine (OXC) drug medication. Results: Five of the 8 patients were male. Patient mean age was 27.87 (19-42 years). Onset age of epilepsy was between 7 and 15 years. No patient described absence and myoclonic seizures. All experienced generalized convulsive seizures with some dissimilarities. Interictal EEG of all the patients revealed generalized spike and multiple spike and wave discharges. All patients responded best to CBZ and/or OXC. Conclusion:The paradigm of classifying epilepsies as to focal and generalized and treating them accordingly may change in the coming years.Key words: Spike and wave discharges; focal epilepsy; generalized epilepsy; carbamazepine; treatment. ÖzetAmaç: Fokal interiktal elektroensefalografi (EEG) bulgularının varlığı idiyopatik jeneralize epilepsilerde sıklıkla vurgulanmıştır. Nöbet artışına yol açabileceği için bu hastalarda karbamazepin (CBZ) benzeri ilaçlardan kaçınmak gerekir. Ancak bu durumun tersi de söz konusu olabilir. Bazı epilepsi hastalarında EEG bulguları net olarak jeneralize diken dalga boşalımları göstermesine rağmen CBZ'ye dramatik olarak yanıt vermektedirler. İnteriktal EEG incelemelerinde jeneralize diken dalga boşalımları olan sekiz hastanın CBZ tedavisine verdikleri yanıt açısından ele alınarak tartışılması amaçlanmıştır. Gereç ve Yöntem:Elektroensefalografi incelemelerinde jeneralize diken/çoklu diken yavaş dalga boşalımları olan ve CBZ ve/veya okskarbazepine (OXC) yanıt veren jeneralize tonik klonik nöbetli (JTKN) olgular geriye dönük olarak değerlendirilmiştir. Bulgular: Sekiz hastanın beşi erkektir. Yaş ortalamaları 27.87 (19-42) yıl olarak bulunmuştur. Nöbetlerin başlangıç yaşı yedi ile 15 yaş arasında değişmektedir. Hastaların hiç birisinde absans ya da miyoklonik nöbet tanımlanmamıştır. Hepsi, bazı farklılıklar bulunmakla birlikte JTKN geçirmekteydi. Tümünün interiktal EEG incelemelerinde jeneralize diken ve çoklu diken yavaş dalga boşalımları gözlenmiştir. Tüm hastaların en iyi CBZ ve/veya OXC tedavisine yanıt verdikleri gözlenmiştir. Sonuç:Epilepsilerin fokal ve jeneralize olarak sınıflandırılması ve yalnızca bu ayırıma dayalı tedavi yaklaşımlarının önümüzdeki yıllarda deği-şebileceği düşünülmektedir.Anahtar sözcükler: Diken yavaş dalga deşarjları; fokal epi...

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“…Infantile spasms, intractable epilepsy, cognitive disabilities, and autism are the main clinical features in the central nervous system of patients suffering from TSC (Wataya-Kaneda et al, 2013;Michelozzi et al, 2013;Hsieh et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Case Report Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex

Mi¹,

Wang²,

Jiang³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090-5092delCCA-inAG) in exon 39 in two Chinese Han children with TSC whose first clinical manifestation was seizure. The identification of these two mutations confirmed the diagnosis of TSC and expands the spectrum of TSC2 mutations causing TSC.

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Epileptic spasms in tuberous sclerosis complex

Cited by 24 publications

References 38 publications

Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome

Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome

The role of focal versus generalized epilepsy classification and EEG features on antiepileptic drug choice

Case Report Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex

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