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STXBP1-Related Developmental and Epileptic Encephalopathy Cover

STXBP1-Related Developmental and Epileptic Encephalopathy

Open Access
|Dec 2019

References

  1. Stamberger H Nikanorova M Willemsen MH Accorsi P Angriman M Baier H STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy Neurology 2016 Mar 86 10 954 62 https://doi.org/10.1212/WNL.0000000000002457 26865513
  2. Gburek-Augustat J Beck-Woedl S Tzschach A Bauer P Schoening M Riess A Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome Eur J Paediatr Neurol 2016 Jul 20 4 661 5 https://doi.org/10.1016/j.ejpn.2016.04.005 27184330
  3. Uddin M Woodbury-Smith M Chan A Brunga L Lamoureux S Pellecchia G Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes Neurol Genet 2017 Dec 3 6 e199 https://doi.org/10.1212/NXG.0000000000000199 29264391
  4. Weckhuysen S Holmgren P Hendrickx R Jansen AC Hasaerts D Dielman C Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers Epilepsia 2013 May 54 5 e74 80 https://doi.org/10.1111/epi.12124 23409955
Language: English
Page range: 6 - 6
Submitted on: Feb 11, 2019
Accepted on: Dec 30, 2019
Published on: Dec 31, 2019
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services

© 2019 Brittani Wild, Stephen Lewis Nelson, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.