Aicardi syndrome

J Aicardi - Brain and development, 2005 - Elsevier
Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and
chorioretinal ‘lacunae’. It occurs only in individuals with two X chromosomes and is not …

[PDF][PDF] Clinical and molecular phenotype of Aicardi-Goutieres syndrome

…, R Parmar, CF Taylor, A Aeby, J Aicardi… - The American Journal of …, 2007 - cell.com
Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …

Aicardi‐Goutieres syndrome: an update and results of interferon‐α studies

F GoutièRes, J Aicardi, PG Barth… - Annals of Neurology …, 1998 - Wiley Online Library
J Neurol Neurosurg Psychiatry 1981;44:1168-1170 Aicardi J, Goutikres F. A progressive
familial encephalopathy in infancy with calcifications of the basal ganglia and chronic ce…

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection

…, R Parmar, E Griffith, M Ali, C Semple, J Aicardi… - Nature …, 2006 - nature.com
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical
and immunological features of which parallel those of congenital viral infection. Here we …

The Aicardi syndrome

J Aicardi, JJ Chevrie - Callosal agenesis: A natural split brain?, 1994 - Springer
… The main features of AS, based on a study of 184 cases have been described in detail
recently (Chevrie and Aicardi, 1986) and the frequency of the main features in this review are …

Alternating hemiplegia of childhood

M Bourgeois, J Aicardi, F Goutières - The Journal of pediatrics, 1993 - Elsevier
We report 22 cases of alternating hemiplegia of childhood. In addition to repeated episodes
of hemiplegia lasting from a few minutes to several days, the disease was characterized by …

[BOOK][B] Epilepsy: a comprehensive textbook

J Engel, TA Pedley, J Aicardi - 2008 - books.google.com
Written and edited by world-renowned authorities, this three-volume work is, to quote a
reviewer," the definitive textbook about seizures and epilepsy". This Second Edition is thoroughly …

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

B Hagberg, J Aicardi, K Dias… - Annals of Neurology …, 1983 - Wiley Online Library
… Arsenio-Nunes ML, Goutieres F, Aicardi J: An ultramicroscopic study of skin and conjunctival
biopsies in chronic neurological disorders of childhood. Ann Neurol '3163-173, 1981 2. …

Convulsive status epilepticus in infants and children: a study of 239 cases

J Aicardi, JJ Chevrie - Epilepsia, 1970 - Wiley Online Library
Two hundred and thirty‐nine cases of status epilepticus in children 0–15 years old have been
studied. Generalized tonic‐clonic and unilateral clonic convulsions constituted the bulk of …

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

J Aicardi, F Goutieres - Annals of Neurology: Official Journal of …, 1984 - Wiley Online Library
Eight infants developed a progressive disorder of the central nervous system with bilateral
spasticity and dystonia, acquired microcephaly, and a rapid course toward profound …