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Rayan Magsi
Rayan Magsi

Public Documents 1
Novel Gene Abnormality in Epilepsy with Myoclonic-Atonic Seizures (Doose Syndrome)
Rayan Magsi
Casey Ryan

Rayan Magsi

and 4 more

February 15, 2022
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.

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