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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

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keywords Child Neurology
preferred title Director, Child Neurology Residency Program
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 Child
Concept Child Abuse
Concept Child, Preschool
Concept Neurology
Academic Article Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.
Academic Article Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 ? recapitulate the mitochondriopathy of the homologous null mouse.
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 Practice parameter: evaluation of the child with microcephaly (an evidence-based review): report of the quality standards subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Academic Article Pretreatment EEG in childhood absence epilepsy: associations with attention and treatment outcome.
Academic Article Safety and tolerability of adjunctive lacosamide in a pediatric population with focal seizures - An open-label trial.
Academic Article Pediatric Head Trauma: A Review and Update.
Grant Reaching out for Epilepsy in Adolescents and Children through Telemedicine (REACT)
Academic Article The 2018 Pediatric Neurology Trainee Publication Award.
Academic Article The 2017 Pediatric Neurology Training Publication Award.
Academic Article Case Presentation of Anti-NMDA Receptor Encephalitis in a 4-Year-Old Boy.
Academic Article Editorial: The 2016 Pediatric Neurology Trainee Publication Award.
Academic Article A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.
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 Barriers, access and management of paediatric epilepsy with telehealth.
Academic Article The efficacy and tolerability of auto-stimulation-VNS in children with Lennox-Gastaut syndrome.
Academic Article Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.

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  • Child
  • Neurology