The Epilepsies

Recent advances in the diagnosis and treatment of epilepsies are discussed with special consideration of epidemiology and classification, progress in neuroimaging, electrophysiological studies using EEG and MEG, initiation of medical and surgical treatment, the role of new antiepileptic drugs and selected aspects of genetics of idiopathic epilepsies. In addition from conclusions obtained by the review of recent developments suggestions for future work in Europe are discussed. A constructive approach from multicenter studies requires homologous definitions, documentations and standardization of procedures of trials for European multicenter studies.

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“…A recent overview concerning MRI, MRS and different metabolites or neurotransmitters was provided by Duncan (2000).…”

Section: Progress In Diagnosismentioning

confidence: 99%

“…There is great research interest also in the potential for MRS to provide quantitative measures of changes in c-aminobutyric acid (GABA) and glutamate concentrations in cortical areas. A recent overview concerning MRI, MRS and dierent metabolites or neurotransmitters was provided by Duncan (2000).…”

Section: Magnetic Resonance Spectroscopymentioning

confidence: 99%

Recent advances in the diagnosis and treatment of epilepsy

Stefan

Halász

Gil‐Nagel

et al. 2001

Euro J of Neurology

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Type I glutaric aciduria, part 1: Natural history of 77 patients

Strauss

Puffenberger²,

Robinson³

et al. 2003

American J of Med Genetics Pt C

292

342

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Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. We present detailed clinical, neuroradiologic, molecular, biochemical, and functional data on 77 patients with GA1 representative of a 14-year clinical experience. Microencephalic macrocephaly at birth is the earliest sign of GA1 and is associated with stretched bridging veins that can be a cause of subdural hematoma and acute retinal hemorrhage. Acute striatal necrosis during infancy is the principal cause of morbidity and mortality and leads to chronic oromotor, gastroesophageal, skeletal, and respiratory complications of dystonia. Injury to the putamen is heralded by abrupt-onset behavioral arrest. Tissue degeneration is stroke-like in pace, radiologic appearance, and irreversibility. It is uniformly symmetric, regionally selective, confined to children under 18 months of age, and occurs almost always during an infectious illness. Our knowledge of disease mechanisms, though incomplete, is sufficient to allow a rational approach to management of encephalopathic crises. Screening of asymptomatic newborns with GA1 followed by thoughtful prospective care reduces the incidence of radiologically and clinically evident basal ganglia injury from approximately 90% to 35%. Uninjured children have good developmental outcomes and thrive within Amish and non-Amish communities.

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Type I glutaric aciduria, part 2: A model of acute striatal necrosis

Strauss

Morton²

2003

American J of Med Genetics Pt C

124

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Type I glutaric aciduria (GA1) is an inborn error of organic acid metabolism that is associated with acute neurological crises, typically precipitated by an infectious illness. The neurological crisis coincides with swelling, metabolic depression, and necrosis of basal ganglia gray matter, especially the putamina and can be visualized as focal, stroke-like, signal hyperintensity on MRI. Here we focus on the stroke-like nature of striatal necrosis and its similarity to brain injury that occurs in infants after hypoxia-ischemia or systemic intoxication with 3-nitropropionic acid (NPA). These conditions share several features including abrupt onset, preferential effect in the striatum and age-specific susceptibility. The pathophysiology of the conditions is reviewed and a model proposed herein. We encourage investigators to test this model in an appropriate experimental system.

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The Epilepsies

Cited by 5 publications

References 355 publications

Recent advances in the diagnosis and treatment of epilepsy

Recent advances in the diagnosis and treatment of epilepsy

Type I glutaric aciduria, part 1: Natural history of 77 patients

Type I glutaric aciduria, part 2: A model of acute striatal necrosis

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