Article

Novel Gene Abnormality in Epilepsy with Myoclonic-Atonic Seizures (Doose Syndrome)

2022-02-15

Abstract excerpt

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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Literature Corpus work: a2cbc11d-a1d4-50f5-8e19-79d189db7975
DOI: 10.22541/au.164493763.39895261/v1

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