Periventricular Nodular Heterotopia: Epileptogenic Findings
نویسندگان
چکیده
منابع مشابه
Periventricular 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 کاملPeriventricular nodular heterotopia with overlying polymicrogyria.
Polymicrogyria (PMG) and periventricular nodular heterotopia (PNH) are two developmental brain malformations that have been described independently in multiple syndromes. Clinically, they present with epilepsy and developmental handicaps in both children and adults. Here we describe their occurrence together as the two major findings in a group of at least three cortical malformation syndromes....
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 ...
متن کاملDeletion of chromosome 1p36 is associated with periventricular nodular heterotopia.
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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ژورنال
عنوان ژورنال: Epilepsia
سال: 1997
ISSN: 0013-9580,1528-1167
DOI: 10.1111/j.1528-1157.1997.tb01213.x