portuguese/crise épileptique

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Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation.

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BACKGROUND Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified. We describe a Portuguese family harboring a novel CCM1

Impact of epilepsy on QOL in a Portuguese population: exploratory study.

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OBJECTIVE To develop an outcome measure of QOL (quality of life) for the Portuguese population; describe QOL in epileptics; analyse how QOL is affected by epilepsy and analyse how QOL is affected by patients' characteristics. METHODS Study of a consecutive sample of 92 epileptics from an outpatient

Ketogenic Diet for Refractory Childhood Epilepsy: Beyond Seizures Control, the Experience of a Portuguese Pediatric Centre.

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Ketogenic diet is a low carbohydrate diet, which can be used as a treatment for refractory childhood epilepsy. The first aim of this study was to evaluate its efficacy, in patients receiving ketogenic diet for at least three months, on epilepsy control, behaviour and awareness. The

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.

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We studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and subcortical leukoencephalopathy. Increased levels of

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

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We present clinical, biochemical and cranial magnetic resonance imaging data of six pediatric patients with L-2-hydroxyglutaric aciduria. All the children have the same ethic origin and lived in the northern area of Portugal. Our findings reinforce the described phenotype of this rare metabolic

Validity and reliability of the Portuguese version of the Epilepsy Medication Treatment Complexity Index for Brazil.

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We evaluated the reliability and validity of a Brazilian-Portuguese version of the Epilepsy Medication Treatment Complexity Index (EMTCI). Interrater reliability was evaluated with the intraclass correlation coefficient (ICC), and validity was evaluated by correlation of mean EMTCI scores with the

Long-Term Seizure, Quality of Life, Depression, and Verbal Memory Outcomes in a Controlled Mesial Temporal Lobe Epilepsy Surgical Series Using Portuguese-Validated Instruments.

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OBJECTIVE We aimed to evaluate long-term surgical outcomes in patients treated for mesial temporal lobe epilepsy compared with a similar group of patients who underwent a preoperative evaluation. METHODS Patient interviews were conducted by an independent neuropsychologist and included a

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.

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Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP -related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by Sanger's sequencing in three boys from two unrelated Belarusian families. In both families, one

Validation of a Portuguese version of a generic health quality-of-life questionnaire for children with neurological and neuropsychiatric disorders, including epilepsy.

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OBJECTIVE To validate a Portuguese version of a generic HRQL instrument already used for children with epilepsy. To analyze differences of scores among children with epilepsy and co-morbidities in contrast to other neurological and neuropsychiatric diagnosis, especially Attention Deficit and

Lamotrigine as add-on therapy in treatment-resistant epilepsy. Portuguese Lamotrigine as Add-on Therapy in Treatment-resistant Epilepsy Study Group.

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The efficacy and safety of lamotrigine as add-on therapy in treatment-resistant epilepsy were evaluated in an open prospective study carried out at five centres in Portugal and involving 61 patients. Daily seizure diaries were kept by patients, and used by the investigators to give a rating of

Are adverse effects of antiepileptic drugs different in symptomatic partial and idiopathic generalized epilepsies? The Portuguese-Brazilian validation of the Liverpool Adverse Events Profile.

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We report the results of administration of the Portuguese-Brazilian translation of the Liverpool Adverse Events Profile (LAEP) to 100 patients (mean age=34.5, SD=12.12; 56 females), 61 with symptomatic partial epilepsy (SPE) and 39 with idiopathic generalized epilepsy (IGE) (ILAE, 1989) who were on

Systematic review of the efficacy in seizure control and safety of neuronavigation in epilepsy surgery: The need for well-designed prospective studies.

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OBJECTIVE To evaluate the efficacy of surgery with neuronavigation compared to conventional neurosurgical treatment of epilepsy in terms of safety and seizure outcomes and to assess the quality of the evidence base of neuronavigation in this clinical context. METHODS Systematic review using the

Seizures in cerebral vein and dural sinus thrombosis.

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To describe early symptomatic and late seizures in a cohort of patients with acute cerebral vein and dural sinus thrombosis (CVDST) and to identify their determinants, we performed a prospective registry and follow-up study of CVDST patients admitted to 20 Portuguese hospitals, from June 1995 to

Variables associated with co-existing epileptic and psychogenic nonepileptic seizures: a systematic review.

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OBJECTIVE Epileptic seizures (ES) have many mimickers, perhaps the most relevant being psychogenic nonepileptic seizures (PNES). The picture is even more challenging when PNES are associated with ES in a given patient. The aim of this research paper was to delineate the demographic, epileptological

Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.

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3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency (3-hydroxy-3-methylglutaric aciduria, 3-HMG) is a rare autosomal recessive inborn error of metabolism involving the final step of leucine degradation. HL is the key enzyme for the production of glucose-sparing ketone bodies for brain. Positive

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