STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients
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چکیده
منابع مشابه
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic va...
متن کاملInfantile spasms.
Infantile spasms constitute both a distinctive seizure type and an age-specific epilepsy syndrome that have been extensively described for over a century. Standardization of the classification of infantile spasms has evolved, culminating in recent recommendations for separately recognizing and distinguishing the seizure type (spasms or epileptic spasms) and the epilepsy syndrome of infantile sp...
متن کاملInfantile spasms.
Overview Infantile spasms, also known as West syndrome, is a catastrophic childhood epilepsy with seizures that are difficult to control; it is associated with mental retardation. It usually has an onset during the first year of life, and typically between 4 and 8 months. Early recognition, careful diagnostic evaluation, and proper treatment may allow some children to attain seizure control and...
متن کاملOutcome of patients with infantile spasms.
PURPOSE To assess outcome of children diagnosed with infantile spasms (IS) during the six-year-period (2002-20006), at the Pediatric Clinic of Clinical Center of University of Sarajevo, as well as to present other important clinical characteristics in this group of patients. METHODS All patients had medical histories with detailed description orvideo recordings of their seizures, as well as p...
متن کاملInfantile spasms Richard
Infantile spasms represent a seizure disorder with unique clinical and electroencephalographic (hypsarrhythmia) features and a poor prognosis including chronic intractable epilepsy and psychomotor retardation. The association of spasms and hypsarrhythmia, with or without mental retardation, defines West's syndrome. West's syndrome is not uncommon; the incidence is considered to be 0 16-0-42 per...
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2011
ISSN: 0013-9580
DOI: 10.1111/j.1528-1167.2011.03163.x