Ring chromosome 20 syndrome with intractable epilepsy
نویسندگان
چکیده
منابع مشابه
The evolving electroclinical syndrome of “epilepsy with ring chromosome 20”
PURPOSE Ring chromosome 20 {r(20)}--manifests as a refractory epilepsy syndrome with complex partial seizures (CPS), nocturnal frontal lobe seizures and non-convulsive status epilepticus (NCSE) in the majority of cases. r20 lacks a specific phenotypic expression or dysmorphic features. Psychomotor development may be normal, making the diagnosis difficult unless there is a high index of suspicio...
متن کاملRing 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...
متن کاملRing chromosome 14 syndrome presenting with intractable epilepsy: a case report.
Ring chromosome 14 syndrome is a rare genetic disorder. Typically, children with this syndrome have distinct facial features, development delay, microcephaly, seizures, ocular abnormalities, and recurrent respiratory infections. Epilepsy associated with ring chromosome 14 generally shows intractable seizures. We describe a six-month-old girl with ring chromosome 14 syndrome who presented with e...
متن کاملEpilepsy 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...
متن کاملClinical commentary with video sequences 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 videoEEG 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, XY...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2007
ISSN: 0012-1622,1469-8749
DOI: 10.1111/j.1469-8749.2005.tb01146.x