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- Clinical insights to genetic diagnosis of Developmental and Epileptic Encephalopathies: lessons from clinical cases
Clinical insights to genetic diagnosis of Developmental and Epileptic Encephalopathies: lessons from clinical cases
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Topic: Clinical insights to genetic diagnosis of Developmental and Epileptic Encephalopathies: lessons from clinical cases
Lecturers: Ana Carolina Piauilino (Speaker); Andrea Sayuri Murata (Speaker); Ana Carolina Coan (Expert Faculty); Maria Augusta Montenegro (Panelist); Maria Luiza Benevides (Moderator)
When: Saturday, May 17, 2025
Time: 9:00 - 10:00 AM Eastern Time (US / Canada)
About Topic:
Early career investigators in Child Neurology will present two Developmental and Epileptic Encephalopathies (DEE) cases associated with CHRNA4 and GRIN2A variants. The cases will be followed by an expert discussion, highlighting the relevance of clinical clues to genetic diagnosis of DEE and precision medicine.
Learning Objectives:
o Describe clinical clues and epilepsy syndromes to guide the genetic diagnosis.
o Outline clinical insights for precision medicine.
o Argue the remaining DEE challenges, despite a genetic diagnosis.