Reflex micturition defecation epilepsy in Angelman syndrome
نویسندگان
چکیده
منابع مشابه
Epilepsy in Angelman syndrome
Angelman syndrome is a neurogenetic disorder caused by lack of UBE3A gene expression from the maternally inherited chromosome 15 due to various 15q11-q13 abnormalities. In addition to severe developmental delay, virtual absence of speech, motor impairment, a behavioural phenotype that includes happy demeanor, and distinctive rhythmic electroencephalographic features, over 90% of patients have e...
متن کاملEpilepsy in Korean patients with Angelman syndrome
PURPOSE The aim of this study was to investigate the natural history of epilepsy and response to anti-epileptic drug treatment in patients with Angelman syndrome (AS) in Korea. METHODS We retrospectively reviewed the clinical records of 14 patients diagnosed with epilepsy out of a total of 17 patients with a genetic diagnosis of AS. These patients were seen at the Department of Pediatric Neur...
متن کاملEpilepsy in patients with Angelman syndrome
Angelman syndrome (AS) is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are hardly diagnosed during infancy as jerky movements, the cardinal sign, appear later in childhood. AS is caused by a ...
متن کاملTeaching Video NeuroImage: Electroclinical characteristics of micturition-induced reflex epilepsy.
Chaturbhuj Rathore, MD Ashalatha Radhakrishnan, MD S. Dinesh Nayak, MD Kurupath Radhakrishnan, MD, FAAN A 6-year-old boy presented with seizures since the age of 3 years characterized by sudden extension of the upper extremities and a tendency to fall forward; each seizure was induced by micturition. The ictal EEG during these seizures showed 20 Hz beta activity followed by 2 Hz spike-wave disc...
متن کاملGenetically Dissecting Cortical Neurons Involved in Epilepsy in Angelman Syndrome
Epilepsy in Angelman Syndrome is thought to originate from an imbalance between local excitatory-inhibitory circuits that results in a generalized hyperexcitability. In this issue of Neuron, Judson et al. (2016) demonstrate that selective maternal deletion of Ube3a in cortical GABAergic neurons causes circuit hyperexcitability, increased seizure severity, and EEG abnormalities.
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ژورنال
عنوان ژورنال: Neurology: Clinical Practice
سال: 2019
ISSN: 2163-0402,2163-0933
DOI: 10.1212/cpj.0000000000000692