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Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice
- J. Viemari, J. Roux, +12 authors G. Hilaire
- Biology, Medicine
- The Journal of Neuroscience
- 14 December 2005
It is hypothesized that breathing disturbances in Mecp2-/y mice, and probably Rett patients, originate in part from a deficiency in noradrenergic and serotonergic modulation of the medullary respiratory network. Expand
Surgical strategies and seizure control in pediatric patients with dysembryoplastic neuroepithelial tumors: a single-institution experience.
In children with extratemporal DNTs the results suggest that complete lesionectomy alone without invasive presurgical investigations are effective for long-term seizure control, and for children with temporal D NTs not invading the amygdalohippocampal complex, extensive presurgical evaluations seem indicated. Expand
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
- C. Philippe, L. Villard, +9 authors T. Bienvenu
- Biology, Medicine
- European journal of medical genetics
The results of M ECP2 mutational analysis concerning 424 RTT patients conducted in eight laboratories in France demonstrate the high allelic heterogeneity of RTT in France and suggest that routine mutation screening in MECP2 should include quantitative analysis of the MECp2 gene. Expand
Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome
- J. Roux, Emmanuelle Dura, A. Moncla, J. Mancini, L. Villard
- The European journal of neuroscience
- 1 April 2007
It is proposed that the Mecp2‐deficient TH‐expressing neurons lose their ability to synthesize TH at some point during their postnatal development, and a pharmacological stimulation of the noradrenergic system could be a promising approach for the treatment of the respiratory dysfunction in RS patients. Expand
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
It was showed that ataxia, myoclonus, EEG abnormalities, speech impairment, characteristic behavioural phenotype, and abnormal head circumference are attributable to a deficiency in the maternally inherited UBE3A allele, and analysis of mutation transmission showed an unexpectedly high rate of somatic mosaicism in normal carriers. Expand
The incidence of Rett syndrome in France.
The present study, based on a large cohort of 424 patients with Rett syndrome, found that the incidence of this disease with a MECP2 mutation varied between 0.43 to 0.71 per 10,000 females. Expand
Ischemic Cerebrovascular Disease in Children: Retrospective Study of 35 Patients
A 10-year review of a neuropediatric department experience with childhood isChemic cerebrovascular disease identified 35 patients with arterial ischemic stroke and identified 17 specific causes among them. Expand
Transient Brain Magnetic Resonance Imaging Hyperintensity in Basal Ganglia and Brain Stem of Epileptic Infants Treated With Vigabatrin
It is concluded that vigabatrin treatment is associated with transient hypersignal of the basal ganglia and brain stem in epileptic infants and such transient hyperintensity is likely to be age-dependent and time-dependent because it has never been observed in adult patients. Expand
Topiramate: efficacy and tolerability in children according to epilepsy syndromes
It is confirmed that TPM is effective and well tolerated in children under 12 years of age in a broad range of epilepsy syndromes, including refractory partial epilepsy, and symptomatic and myoclonic generalized epilepsy. Expand
Genetic heterogeneity of familial hemiplegic migraine.
- A. Joutel, A. Ducros, +7 authors J. Gastaut
- Biology, Medicine
- American journal of human genetics
- 1 December 1994
Two-point and multipoint lod score analyses as well as HOMOG testing provided strong evidence for genetic heterogeneity of FHM and it was established that the most likely location of the gene was within an interval of 12 cM between D 19S413 and D19S226. Expand