Periventricular Heterotopia and Retardation
نویسندگان
چکیده
منابع مشابه
Periventricular heterotopia.
A 34-year-old epilepsy woman had first seizure when aged 14. Seizure patterns are mainly simple partial type, presented by a sense of air within chest wall rising to head or focal twitching of right hand. She also had generalized tonicclonic seizures before. In recent four years, she did not experience generalized seizure although simple partial seizures were noted average four to five times a ...
متن کاملPeriventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
BACKGROUND Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients have seizures and their cognitive level varies from normal to severely impaired. At present, two genes have been identified to cause PH when mutated. Mutations in FLNA (Xq28) and ARFGEF2 (20q13) are res...
متن کاملPeriventricular nodular heterotopia and cardiovascular defects.
BACKGROUND Periventricular nodular heterotopia (PNH) is a rare congenital anomaly of the brain presenting as nodular heterotopia along the paraventricular region. Ten cases of PNH complicated by aortic aneurysm have been reported in the literature, and 9 of them also had symptoms of Ehlers-Danlos syndrome (EDS). This study investigated the association of PNH and cardiovascular anomalies in Asia...
متن کاملAbsence epilepsy and periventricular nodular heterotopia
We report a case of a girl who presented with typical absence seizures at age of 4.5 years. EEG showed absence seizures of sudden onset with 3 Hz spike-and-waves that also correlated with the clinical absences. The seizure semiology included subtle deviation of the eyes which prompted MRI investigation of the brain. This showed a periventricular nodular heterotopia in the mid to anterior horn o...
متن کاملPeriventricular nodular heterotopia and Williams syndrome.
We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1997
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-11-11-10