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Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy

Tubulin proteins play a role in the cortical development. Mutations in the tubulin genes affect patients with brain malformations. The present report describes two cases of developmental and epileptic encephalopathy (DEE) due to tubulinopathy. Case 1, a 23-year-old boy, was found to have a brain mal...

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Detaylı Bibliyografya
Asıl Yazarlar: Kun-Long Hung, Jyh-Feng Lu, Da-Jyun Su, Su-Jin Hsu, Lee-Chin Wang
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI AG 2022-07-01
Seri Bilgileri:Children
Konular:
Online Erişim:https://www.mdpi.com/2227-9067/9/8/1105
Etiketler: Etiketle
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