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CASE DISCUSSION - Neurotransmitter disorders
Description
We will present 2 patients with biogenic amine neurotransmitter disorders. The first one is a girl who presented at 6 months of age with motor delay and paroxysmal eye movements. The second one is a boy who presented at 12 months of age with paroxysmal episodes of truncal extension in the setting of febrile illnesses. We will focus on the clinical signs that raise suspicion of a disorder of neurotransmission and we will present the diagnostic work up to reach a final diagnosis.
Time
Jan 25, 2023 04:00 PM in
London
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Hi there, You are invited to a Zoom webinar. When: Jan 25, 2023 04:00 PM London Topic: CASE DISCUSSION - Neurotransmitter disorders Register in advance for this webinar: https://us02web.zoom.us/webinar/register/WN_pbPBTFFHTQiTMEZ9mW7Mnw After registering, you will receive a confirmation email containing information about joining the webinar. ---------- Webinar Speakers Roser Pons (Dr @AGIA SOFIA HOSPITAL, UNIVERSITY OF ATHENS) Dr Roser Pons is a graduate of the Pediatric training program at Vall D’Hebron hospital in Barcelona, and of the Pediatric Neurology training program at Columbia University, New York. Subsequent to her residency, she underwent further training in the subspecialty of Movement disorders at Columbia University. Currently she is working in the First Department of Pediatrics of the University of Athens at Children’s Hospital Aghia Sofia where she is the responsible for the Special Unit of Pediatric Neurology. She runs several outpatient clinics including “Movement disorders and Rare Neurological Disorders”, “Complex cerebral palsy clinic” and “Dystonia Clinic”. Eleftheria Kokkinou MD, MSc, cPhD, (Paediatric Neurologist @Agia Sofia Childrens Hospital, Athens, Greece) Graduated from the School of Medicine of the Aristotle University of Thessaloniki in Greece. Training in Paediatrics at First Department of Paediatrics, Medical School, University of Athens, Children's Hospital "Aghia Sophia", Greece and Postgraduate training/specialization in Paediatric Neurology (Clinical Academic Fellow in Paediatric Neurology) Special Interest in Neurocutaneous Disorders, Neuromuscular Diseases, Rare Neurological Disorders, Neurometabolic Disorders, Movement Disorders,Neurooncology, Cerebral Palsy and Demyelinating Diseases. SMA Clinic, Neurologic Consultation at Paediatric Wards). Master's Degree in Clinical Application of Molecular Medicine (MSc) and cPhD. Basic science research experience in experimental models of epilepsy and in molecular/genetic laboratory methods. Publications in national and international journals. Sub investigator in clinical studies. Participation in national and international conferences (oral & poster-presentations) Lelde Liepina (Dr @Medical Center, Department of Neurology, Rotterdam, the Netherlands) Child neurologist from Riga, Latvia, currently fulfilling the criteria to become a child neurologist in the Netherlands. Fields of interest: epilepsy, ketogenic diet, neuroinfections, delayed “treatable” neurometabolic diseases.’ Tessa Wassenberg MD PhD (Dr @Pediatric Neurology Unit & Metabolic Disorders, Vrij Universities, UZ Brussels, Belgium) Tessa Wassenberg completed her training as a neurologist at the Radboudumc Nijmegen, the Netherlands in 2018, followed by a fellowship in pediatric neurology and metabolic disorders at UZ Brussel, Belgium. Since 2020 she works as a pediatric neurologist at UZ Brussel, with a special interest in neurometabolic disorders, movement disorders, and rare disorders. She has defended her PhD on monoamine neurotransmitter disorders at the Radboud University Nijmegen in December 2021. She is the lead author on the international guideline on diagnosis and management of AADC deficiency (2017), for which a revision is currently in progress.
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