Search Results - "AICARDI, J"

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome) by FERTLEMAN, C. R, FERRIE, C. D, POLLITZER, M, ROSSITER, M, ROULET-PEREZ, E, SCHUBERT, R, SMITH, V. V, TESTARD, H, WONG, V, STEPHENSON, J. B. P, AICARDI, J, BEDNAREK, N. A. F, EEG-OLOFSSON, O, ELMSLIE, F. V, GRIESEMER, D. A, GOUTIERES, F, KIRKPATRICK, M, MALMROS, I. N. O

“…To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition…”
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A Phase 2 Study of Temozolomide in the Treatment of Adult Patients With Supratentorial Low-Grade Glioma by Wahl, M, Aicardi, J, Haas-Kogan, D.A, Butowski, N, Clarke, J, Prados, M, Phillips, J, Berger, M.S, Chang, S

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Atypical semiology of rolandic epilepsy in some related syndromes by Aicardi, J

“…Atypical seizures, especially generalized or focal atonic attacks and atypical absences may occur in association with the classical seizures of rolandic…”
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Epileptic Encephalopathies with Myoclonic Seizures in Infants and Children (Severe Myoclonic Epilepsy and Myoclonic-Astatic Epilepsy) by Guerrini, Renzo, Aicardi, Jean

“…Myoclonic attacks are not characteristic of a specific syndrome. In infancy and early childhood, they are often observed in the context of syndromes that are…”
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Sturge-Weber syndrome : Indications and results of surgery in 20 patients by ARZIMANOGLOU, A. A, ANDERMANN, F, AICARDI, J, SAINTE-ROSE, C, BEAULIEU, M.-A, VILLEMURE, J.-G, OLIVIER, A, RASMUSSEN, Th

“…To discuss the indications and timing for resective surgery in patients with Sturge-Weber syndrome (SWS) and medication-resistant epilepsy. SWS that causes…”
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Systemic lupus erythematosus or Aicardi-Goutières syndrome? by Aicardi, J, Goutières, F

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Vagal Nerve Stimulation in Epileptic Encephalopathies by Aicardi, Jean

“…Vagal nerve stimulation has a long way to go in terms of giving a definite answer to the challenge of severe early-onset epilepsies as it is only partly…”
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The etiology of developmental delay by Aicardi, Jean

“…Developmental delay includes mental retardation (IQ less than 70) and borderline intellectual functioning (IQ 71 to 84). The overall frequency is between 1%…”
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Dreamy state: a case report from the selected writings of John Hughlings Jackson. Brain 1874 by Aicardi, J

“…This masterly account of a remarkable type of epileptic attacks with "dreamy state" was published in Brain, volume XI, pp. 179-207 in 1888 [1]. The patient was…”
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Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q by Melki, J, Abdelhak, S, Sheth, Peter, Bachelot, M. F, Burlet, Peter, Marcadet, Alun, Aicardi, J, Barois, Alun, Carriere, J. P, Fardeau, M, Fontan, D, Ponsot, G, Billette, T, Angelini, C, Barbosa, C, Ferriere, G, Lanzi, G, Ottolini, Alun, Babron, M. C, Cohen, D, Hanauer, Alun, Clerget-Darpoux, F, Lathrop, M, Munnich, Alun, Frezal, J

“…Proximal spinal muscular atrophies represent the second most common fatal, autosomal recessive disorder after cystic fibrosis. The childhood form is…”
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A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis by Aicardi, J, Goutières, F

“…Eight infants developed a progressive disorder of the central nervous system with bilateral spasticity and dystonia, acquired microcephaly, and a rapid course…”
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Neonatal seizures after pyridoxine use by Baxter, Peter, Aicardi, Jean

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Diffuse cortical dysplasia, or the double cortex syndrome : the clinical and epileptic spectrum in 10 patients by PALMINI, A, ANDERMANN, F, ANDERMANN, E, ROBITAILLE, Y, AICARDI, J, DULAC, O, CHAVES, F, PONSOT, G, PINARD, J. M, GOUTIERES, F, LIVINGSTON, J, TAMPIERI, D

“…Diffuse neuronal migration disorders associated with epilepsy can now be recognized by modern neuroimaging techniques, particularly high-resolution MRI. We…”
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Syndromic classification in the management of childhood epilepsy by Aicardi, J

“…Epilepsy syndromes, defined as clusters of symptoms or signs occurring consistently together, form the basis of the currently accepted classification of the…”
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NNP018 Neonatal presentation of alternating hemiplegia of childhood by Schippers, H, Heidema, J, Schipper, H, de Koning-Tijssen, M, Laan, L, de Vries, L, Aicardi, J

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The inherited leukodystrophies: A clinical overview by Aicardi, J.

“…Summary The leukodystrophies are degenerative diseases that involve primarily the white matter of the brain. The most common leukodystrophies result from known…”
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Aicardi syndrome by Aicardi, Jean

“…Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal ‘lacunae’. It occurs only in individuals with two X…”
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients by Panagiotakaki, Eleni, De Grandis, Elisa, Stagnaro, Michela, Heinzen, Erin L, Fons, Carmen, Sisodiya, Sanjay, de Vries, Boukje, Goubau, Christophe, Weckhuysen, Sarah, Kemlink, David, Scheffer, Ingrid, Lesca, Gaëtan, Rabilloud, Muriel, Klich, Amna, Ramirez-Camacho, Alia, Ulate-Campos, Adriana, Campistol, Jaume, Giannotta, Melania, Moutard, Marie-Laure, Doummar, Diane, Hubsch-Bonneaud, Cecile, Jaffer, Fatima, Cross, Helen, Gurrieri, Fiorella, Tiziano, Danilo, Nevsimalova, Sona, Nicole, Sophie, Neville, Brian, van den Maagdenberg, Arn M J M, Mikati, Mohamad, Goldstein, David B, Vavassori, Rosaria, Arzimanoglou, Alexis

“…Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series…”
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Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy by Goutières, F, Mikol, J, Aicardi, J

“…A 15-year-old boy presented with progressive pyramidal and extrapyramidal signs, anterior horn cell dysfunction, and behavioral disturbances suggesting a…”
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Epileptic syndromes in childhood by Aicardi, J

“…Epileptic syndromes are clusters of signs and symptoms regularly occurring together. These may include type of seizure(s), time and circumstances of…”
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