Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC.
PBN-AR
Instytucja
Instytut "Pomnik - Centrum Zdrowia Dziecka"
Informacje podstawowe
Główny język publikacji
en
Czasopismo
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
ISSN
1090-3798
EISSN
1532-2130
Wydawca
Saunders
Rok publikacji
2016
Numer zeszytu
2
Strony od-do
203-211
Numer tomu
20
Identyfikator DOI
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Autorzy
(liczba autorów: 8)
Pozostali autorzy
+ 7
Słowa kluczowe
en
epileptic encephalopathy
genetics
tuberous sclerosis
vigabatrin
mTOR
Streszczenia
Język
en
Treść
BACKGROUND: In tuberous sclerosis complex (TSC) a relationship has been shown between early and refractory seizures and intellectual disability. However, it is uncertain whether epilepsy in TSC is simply a marker in infants who are destined to develop an encephalopathic process or if seizures play a causal role in developing an encephalopathy. METHODS: This paper summarizes the key points discussed during a European TSC workshop held in Rome, and reviews the experimental and clinical evidence in support of the two theories. RESULTS/CONCLUSION: There are many factors that influence the appearance of both early seizure onset and the encephalopathy resulting in neurodevelopmental deficits. Experimental studies show that as a consequence of the TSC genes mutation, mammalian target of Rapamycin (mTOR) overactivation determines an alteration in cellular morphology with cytomegalic neurons, altered synaptogenesis and an imbalance between excitation/inhibition, thus providing a likely neuroanatomical substrate for the early appearance of refractory seizures and for the encephalopathic process. At the clinical level, early signs of altered developmental trajectories are often unrecognized before 12 months of age. Evidence from experimental research shows that encephalopathy in TSC might have a genetic cause, and mTOR activation caused by TSC gene mutation can be directly responsible for the early appearance of seizures and encephalopathy.
Cechy publikacji
review-article
Inne
System-identifier
0000014933
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