Welcoming articles on genotype-dependent clinical features and diagnostics Georg AuburgerManuel B. GraeberLouis J. Ptáček Editorial Open access 01 April 2021 Pages: 103 - 104
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants Ana Carla Mondek RampazzoRafael Rodrigues Pinheiro dos SantosPaulo Henrique Pires de Aguiar Review Article 03 May 2021 Pages: 105 - 115
Multi-system neurological disorder associated with a CRYAB variant Menachem SadehDolev RahatAlexander Lossos Original Article 03 April 2021 Pages: 117 - 125
A novel pathogenic variant in the 3ʹ end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype? Sevim TürayRecep ErözA. Nazlı Başak Original Article 28 April 2021 Pages: 127 - 132
De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy Le Thi Khanh VanHuynh Thi Dieu HienDo Thi Thu Hang Short Communication 05 March 2021 Pages: 133 - 136
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant Ivana DzinovicTereza SerranováMichael Zech Short Communication 06 March 2021 Pages: 137 - 141
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia Ali S. ShalashThomas W. RöslerGregor Kuhlenbäumer Short Communication Open access 29 March 2021 Pages: 143 - 147