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Comment
. 2020 Dec 5;143(11):e92.
doi: 10.1093/brain/awaa290.

Reply: Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency

Sarah Weckhuysen  1   2   3 , Homa Tajsharghi  4
Affiliations
Comment

Reply: Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency

Sarah Weckhuysen et al. Brain. .
No abstract available

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Comment on

  • Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
    Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL; EuroEpinomics-RES consortium AR working group; Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H. Chatron N, et al. Brain. 2020 May 1;143(5):1447-1461. doi: 10.1093/brain/awaa085. Brain. 2020. PMID: 32282878 Free PMC article.
  • Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.
    von Hardenberg S, Richter MF, Hethey S, Yaspo ML, Auber B, Schlegelberger B, Illig T, Guthmann F, Christen HJ, Ripperger T, Bergmann AK. von Hardenberg S, et al. Brain. 2020 Dec 5;143(11):e91. doi: 10.1093/brain/awaa289. Brain. 2020. PMID: 33146701 No abstract available.

References

    1. Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, et al.Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain 2020; 143: 1447–61. - PMC - PubMed
    1. Neuray C, Maroofian R, Scala M, Suultan T, Pai GS, Mojarrad M, et al.Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants. Brain 2020; 143: 2388–97. - PMC - PubMed
    1. Tao R, Davis KN, Li C, Shin JH, Gao Y, Jaffe AE, et al.GAD1 alternative transcripts and DNA methylation in human prefrontal cortex and hippocampus in brain development, schizophrenia. Mol Psychiatry 2018; 23: 1496–505. - PMC - PubMed
    1. von Hardenberg S, Richter MF, Hethey S, Yaspo ML, Auber B, Schlegelberger B, et al. Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1deficiency. Brain 2020; 143: e91. - PubMed