Ring Chromosome 20 and Complex Partial Seizures

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Epilepsy and ring chromosome 20: case report.

We present the clinical, electroencephalographic, neuroimaging (brain magnetic resonance image - MRI and spectroscopy by MRI) and cytogenetic findings of a young male patient with a rare cytogenetic anomaly characterised by a de novo 46,XY,r(20)(p13q13.3) karyotype. He presents with mental retardation, emotional liability, and strabismus, without any other significant dysmorphies. There are bra...

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Ictal involvement of the nigrostriatal system in subtle seizures of ring chromosome 20 epilepsy.

Studies in animal models and patients with epilepsy have suggested that basal ganglia circuits may control epileptic seizures and that striatal dopaminergic transmission may play a role in seizure modulation and interruption. Chromosome 20 [r(20)] syndrome is a well-defined chromosomal disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic f...

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Complex Partial Seizures Present Diagnostic Challenge

Temporal lobe epilepsy (TLE), now more commonly called complex partial seizure disorder so as to include seizures that originate in the frontal foci, straddles the borderland between psychiatry and neurology. Since the condition may involve gross disorders of thought and emotion, patients with temporal lobe epilepsy frequently come to the attention of psychiatrists. But since symptoms may occur...

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Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome.

A four-year-old boy with ring chromosome 17 presenting with early-onset, pharmacoresistant epilepsy underwent repeated 24-hour video-EEG monitoring and cytogenetic analyses, including fluorescent in situ hybridization with telomeric and locus-specific probes of chromosome 17. Epilepsy was characterized by nocturnal motor seizures and by prolonged diurnal electrical status epilepticus. The 46, X...

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Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome

A previously healthy 16-year-old girl of Jamaican descent presented with a 1-year history of progressive daytime somnolence, sleep attacks (sudden irresistible episodes of sleep), and paroxysms of altered level of consciousness. Her parents also reported irritability, mood lability, and hyperphagia. Her history was notable for a mild learning disability diagnosed at 9 years of age. Before sympt...

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ژورنال

عنوان ژورنال: Pediatric Neurology Briefs

سال: 1994

ISSN: 2166-6482,1043-3155

DOI: 10.15844/pedneurbriefs-8-2-3