نتایج جستجو برای: early infantile epileptic encephalopathy
تعداد نتایج: 725871 فیلتر نتایج به سال:
Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) ...
Infantile spasms (IS) is the most recognized epileptic encephalopathy in early infancy, resulting in poor cognitive outcome. Adrenocorticotropic hormone (ACTH) therapy is the first-line therapy for IS, but the relapse rate is high. Relapse after initial ACTH therapy is a poor prognostic factor for longterm seizure control and outcome of cognitive function. Recently, several studies have reporte...
To evaluate and manage epileptic seizures and other paroxysmal events in infants, it is necessary to ask five key questions: (1) Is this a type of epilepsy?; (2) What seizure type(s) are occurring?; (3) Do these seizure types, combined with factors such as age at onset and EEG features, constitute an 'epilepsy syndrome'?; (4) What investigations do we need to do in searching for an underlying a...
Epileptic seizures are a frequent manifestation of Hashimoto's encephalopathy. However, status epilepticus associated with Hashimoto's encephalopathy are not well characterized in medical literature. We described here a 16-year-old girl who presented with complex partial status epilepticus associated with elevated anti-thyroid antibodies. Ictal EEG showed lateralized high amplitude rhythmic del...
Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) followed by targeted sequencing of 35 known epilepsy genes (n = 8) or whole-ex...
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