Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
نویسندگان
چکیده
منابع مشابه
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Periventricular nodular heterotopia is caused by defective neuronal migration that results in heterotopic neuronal nodules lining the lateral ventricles. Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia, but most patients with this malformation do not have a known aetiology. Using comparative genomi...
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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 ...
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Periventricular heterotopia (PH) is a malformation of cortical development characterized by the ectopic localization of neuronal nodules along the lateral ventricle. Mutations in X-linked filamin A gene are the most common cause of PH, although a rarer autosomal recessive form of PH with microcephaly due to ARFGEF2 mutations has been described [Sheen et al., 2001]. Affected individuals generall...
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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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A temporal resection in patients with periventricular nodular heterotopia (PNH) and intractable focal seizures yields poor results. To define the role of heterotopic grey matter tissue in epileptogenesis and to improve outcome, we performed stereoencephalography (SEEG) recordings in eight patients with uni- or bilateral PNH and intractable focal epilepsy. The SEEG studies aimed to evaluate the ...
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ژورنال
عنوان ژورنال: Brain
سال: 2013
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awt249