TLR3 deficiency in patients with herpes simplex encephalitis

SY Zhang, E Jouanguy, S Ugolini, A Smahi, G Elain… - science, 2007 - science.org
Some Toll and Toll-like receptors (TLRs) provide immunity to experimental infections in
animal models, but their contribution to host defense in natural ecosystems is unknown. We …

Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1

…, N Angeard, JM CUISSET, L Vallee… - … Medicine & Child …, 2012 - Wiley Online Library
Aim To investigate the psychiatric and cognitive phenotype in young individuals with the
childhood form of myotonic dystrophy type 1 (DM1). Method Twenty‐eight individuals (15 …

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

…, D Valseriati, P Veggiotti, F Vigevano, L Vallee… - Neurology, 2003 - AAN Enterprises
Objectives: SCN1A mutations were recently reported in several patients with severe
myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients …

First episode of acute CNS inflammatory demyelination in childhood: prognostic factors for multiple sclerosis and disability

Y Mikaeloff, S Suissa, L Vallée, C Lubetzki… - The Journal of …, 2004 - Elsevier
OBJECTIVES: To evaluate prognostic factors for second attack and for disability in children
presenting with an initial episode of central nervous system (CNS) demyelination. STUDY …

Vagus nerve stimulation for drug‐resistant epilepsy: a European long‐term study up to 24 months in 347 children

I Orosz, D McCormick, N Zamponi, S Varadkar… - …, 2014 - Wiley Online Library
Objective To gain insight into the long‐term impact of vagus nerve stimulation (with VNS
Therapy) in children with drug‐resistant epilepsy, we conducted the largest retrospective …

Antiepileptic popular ketogenic diet: emerging twists in an ancient story

J Vamecq, L Vallée, F Lesage, P Gressens… - Progress in …, 2005 - Elsevier
The antiepileptic activity associated with ketogenic diets (KD) have been known for some
time. First reports date back to the Middle Ages and even Biblical times where KD was …

Sudden death revealing Chiari type 1 malformation in two children

A Martinot, V Hue, F Leclerc, L Vallee, M Closset… - Intensive care …, 1993 - Springer
We report the first two fatal cases of suddden unprovoked cardiorespiratory arrest in children
with previously undiagnosed Arnold-Chiari type 1 malformation. This diagnosis should be …

MRI prognostic factors for relapse after acute CNS inflammatory demyelination in childhood

Y Mikaeloff, C Adamsbaum, B Husson, L Vallée… - Brain, 2004 - academic.oup.com
The prognostic factors for relapse of the initial MRI findings after a first episode of acute CNS
inflammatory demyelination are unclear in children. In this study we aimed to identify initial …

Chromosome 1p21. 3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

MH Willemsen, A Vallès, LAMH Kirkels… - Journal of medical …, 2011 - jmg.bmj.com
Background MicroRNAs (miRNAs) are non-coding gene transcripts involved in post-
transcriptional regulation of genes. Recent studies identified miRNAs as important …

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

…, B De Martinville, B Delobel, L Vallee… - Journal of medical …, 2003 - jmg.bmj.com
METHODS Subjects Our study involved 33 patients with a ''pure''partial 22q13 monosomy,
with exclusion of all rearrangements involving loss or gain of euchromatic material from any …