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Search Results to Jean-Baptiste Le Pichon

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One or more keywords matched the following properties of Le Pichon, Jean-Baptiste

keywords Neurocutaneous Syndromes
keywords Neurocutaneous Diseases
keywords Neurodegenerative Disease, Hereditary
keywords Niemann Pick Disease
research overview Dr. Le Pichon's research interests are broad but currently focus in two general areas of child neurology. The first area is concerned with bilirubin metabolism and toxicity in the infant. This work has resulted from a close collaboration with Dr. Steven Shapiro. Acute bilirubin encephalopathy offers an ideal disease model to study a unique form of choreoathetoid cerebral palsy in that the initial insult and its subsequent consequences are fairly well understood and affect relatively few and constant brain regions. Furthermore, while the disease is relatively well controlled in developed countries (with an incidence comparable to many rare genetic disorders), it remains a major cause of morbidity and mortality in low and middle income countries. Dr. Le Pichon also has a strong interest in developing fair and equitable modes of delivering medical care. This has been the force behind a major effort at improving the care of children and youth with epilepsy in underserved and rural areas.

One or more keywords matched the following items that are connected to Le Pichon, Jean-Baptiste

Item TypeName
Concept Brain Diseases
Concept Crohn Disease
Concept Nervous System Diseases
Concept Disease Progression
Concept Genetic Predisposition to Disease
Concept Autoimmune Diseases of the Nervous System
Concept Rare Diseases
Academic Article 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features.
Academic Article Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Academic Article The Future of Next-Generation Sequencing in Neurology.
Academic Article GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.
Academic Article Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Academic Article A refresher on Tourette syndrome.
Academic Article Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.
Academic Article Seven-Year Experience From the National Institute of Neurological Disorders and Stroke-Supported Network for Excellence in Neuroscience Clinical Trials.
Academic Article Diagnostic yield of genetic testing in 324 infants with hypotonia.
Academic Article Sulphasalazine in asymptomatic Crohn's disease. A multicentre trial.
Academic Article Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.

Search Criteria
  • Neurocutaneous
  • Diseases