schizencephaly/espasmo

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[Ventriculo-peritoneal shunt in the treatment of schizencephaly with infantile spasm: report of one case].

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Schizencephaly is a rare congenital cerebral malformation, which usually produces static neurological symptoms. Occasionally, mass effect on the schizencephalic cavity may cause progressive neurological deficit. Surgical intervention is, therefore, needed to relieve the increased intracranial

Recurrence of Epileptic Spasms as Reflex Seizures Induced by Eating: A Case Report and Literature Review.

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Background Eating epilepsy (EE) is a rare form of reflex epilepsy in which seizures are induced by eating. It is known that most patients with eating seizures, in fact, suffer from symptomatic temporal lobe epilepsy (TLE), whereas only a few patients with epileptic spasms induced by eating (E-ES)

Epileptic spasms in clusters with focal EEG paroxysms: A study of 12 patients.

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OBJECTIVE We analyzed the electroclinical features, etiology, treatment, and outcome of 12 patients with West syndrome (WS) associated with focal hypsarrhythmia (FH). METHODS Between February 2005 and July 2013, 12 patients met the electroclinical diagnostic criteria of WS associated with FH.

Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation.

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Schizencephaly is a rare congenital central nervous system malformation characterized by linear, thickened clefts of the cerebral mantle. Recently, germline mutations in collagen type IV alpha 1 (COL4A1) have been reported to be a genetic cause of schizencephaly as a result of prenatal

Aicardi syndrome associated with anterior cephalocele in a female infant.

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Aicardi syndrome is a triad of abnormalities that includes total or partial agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. This syndrome was first described in 1965. A female infant with Aicardi syndrome associated with a nasoethmoidal cephalocele is described in this

Genetic malformations of the cerebral cortex and epilepsy.

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We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients

Epilepsy and genetic malformations of the cerebral cortex.

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Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Here we review those malformations for which a genetic basis has been elucidated or is suspected and the types of associated epilepsy. Schizencephaly (cleft brain) has a wide anatomo-clinical

[Epilepsy and disorders of cortical development in children with congenital cytomegalovirus infection].

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BACKGROUND Neuroimaging and experimental studies have related cytomegalovirus (CMV) to certain neuronal migration disorders. METHODS To define the electroclinical picture of children with epilepsy associated with disorders of cortical development (DCD) and congenital CMV infection, we conducted a

Pattern of childhood epilepsies with neuronal migrational disorders in Oman.

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Neuronal migrational disorders form a significant cause of psychomotor delay and intractable epilepsy in children. Pediatric neurology services are available at Sultan Qaboos University Hospital, Muscat, Oman, which is a tertiary care hospital for the whole country. The children undergoing

Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients.

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In 1926, Foix, Chavany and Marie described an acquired syndrome of fasciopharyngoglossomasticatory diplegia resulting from bilateral infarction of the anterior operculum. Clinical features consisted of facial diplegia, dysarthria, pseudobulbar palsy, mild to severe mental retardation, and seizures.

Neuronal migration disorders, genetics, and epileptogenesis.

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Several malformation syndromes with abnormal cortical development have been recognized. Specific causative gene defects and characteristic electroclinical patterns have been identified for some. X-linked periventricular nodular heterotopia is mainly seen in female patients and is often associated

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

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We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

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