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Novel Gene Abnormality in Epilepsy with Myoclonic-Atonic Seizures (Doose Syndrome)
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  • Rayan Magsi,
  • Casey Ryan,
  • Ajaz Sheikh,
  • Mariam Noor,
  • Naeem Mahfooz
Rayan Magsi
University of Toledo College of Medicine and Life Sciences

Corresponding Author:[email protected]

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Casey Ryan
University of Toledo College of Medicine and Life Sciences
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Ajaz Sheikh
The University of Toledo Medical Center
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Mariam Noor
The University of Toledo Medical Center
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Naeem Mahfooz
The University of Toledo Medical Center
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Abstract

We present an 8-year-old with absence, generalize tonic-clonic and myotonic-atonic seizures who was diagnosed with Doose syndrome based on clinical presentation and EEG findings. A genetic panel found a SUOX gene mutation which has not yet been correlated with Doose syndrome. Her presentation does not resemble known SUOX related disorders.