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Unexpected discovery of syndromic epilepsy during the genetic exploration of a case of leukemia.
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  • Audrey Grain,
  • adeline normand,
  • caroline Thomas,
  • camille debord,
  • olivier pichon,
  • Marie Bene,
  • Marion Eveillard,
  • olivier theisen
Audrey Grain
Centre Hospitalier Universitaire de Nantes

Corresponding Author:[email protected]

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adeline normand
Centre Hospitalier Universitaire de Nantes
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caroline Thomas
Centre Hospitalier Universitaire de Nantes
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camille debord
Centre Hospitalier Universitaire de Nantes
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olivier pichon
Centre Hospitalier Universitaire de Nantes
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Marie Bene
Centre Hospitalier Universitaire de Nantes
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Marion Eveillard
Centre Hospitalier Universitaire de Nantes
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olivier theisen
Centre Hospitalier Universitaire de Nantes
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Abstract

A three-year-old girl with a history of epilepsy seizures was diagnosed with acute lymphoblastic leukemia. A comprehensive genetic study of blast cells led to the discovery of a constitutional deletion of the PCDH19 gene. This description underlines how modern techniques of molecular investigations in hematological disorders may lead to unexpected findings.