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

Affiliations

¹ Department of Human Genetics, Hannover Medical School, Hannover, Germany.
² Department of Neonatology, Children's and Youth Hospital Auf der Bult, Hannover, Germany.
³ Department of Neuropediatric, Children's and Youth Hospital Auf der Bult, Hannover, Germany.
⁴ Otto Warburg Laboratory Gene Regulation and Systems Biology of Cancer, Max Planck Institute for Molecular Genetics, Berlin, Germany.

Comment

Sandra von Hardenberg et al. Brain. 2020.

. 2020 Dec 5;143(11):e91.

doi: 10.1093/brain/awaa289.

¹ Department of Human Genetics, Hannover Medical School, Hannover, Germany.
² Department of Neonatology, Children's and Youth Hospital Auf der Bult, Hannover, Germany.
³ Department of Neuropediatric, Children's and Youth Hospital Auf der Bult, Hannover, Germany.
⁴ Otto Warburg Laboratory Gene Regulation and Systems Biology of Cancer, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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Reply: Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.
Weckhuysen S, Tajsharghi H. Weckhuysen S, et al. Brain. 2020 Dec 5;143(11):e92. doi: 10.1093/brain/awaa290. Brain. 2020. PMID: 33169137 Free PMC article. No abstract available.

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.