Ausgabe 2/2024
Inhalt (10 Artikel)
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Ettore Cioffi, Gianluca Coppola, Olimpia Musumeci, Salvatore Gallone, Gabriella Silvestri, Salvatore Rossi, Fiorella Piemonte, Jessica D’Amico, Alessandra Tessa, Filippo Maria Santorelli, Carlo Casali
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
Raffaele Falsaperla, Vincenzo Sortino, Giovanna Vitaliti, Grete Francesca Privitera, Martino Ruggieri, Gaia Fusto, Xena Giada Pappalardo
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Wejdan Hakami, Farah Thabet, Amal Alhashem, Abdulaziz Alghamdi, Saad Alshahwan, Fowzan S. Alkuraya, Brahim Tabarki
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Namanpreet Kaur, Khyati Arora, Periyasamy Radhakrishnan, Dhanya Lakshmi Narayanan, Anju Shukla
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Sylvia Safwat, Kyle P. Flannery, Ahmed A. El Beheiry, Mohamed M. Mokhtar, Ebtesam Abdalla, M. Chiara Manzini
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Pardis Najafi, Christian Reimer, Jonathan D. Gilthorpe, Kirsten R. Jacobsen, Maja Ramløse, Nora-Fabienne Paul, Henner Simianer, Jens Tetens, Clemens Falker-Gieske
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort
Ayberk Türkyılmaz, Safiye Güneş Sağer, Emine Tekin, Kerem Teralı, Hanife Düzkalır, Metin Eser, Yasemin Akın
Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
Zhi-Jian Lin, Jun-Wei He, Sheng-Yin Zhu, Li-Hong Xue, Jian-Feng Zheng, Li-Qin Zheng, Bi-Xia Huang, Guo-Zhang Chen, Peng-Xing Lin
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
Sokhna Haissatou Diaw, Sylvie Delcambre, Christoph Much, Fabian Ott, Vladimir S. Kostic, Agata Gajos, Alexander Münchau, Simone Zittel, Hauke Busch, Anne Grünewald, Christine Klein, Katja Lohmann
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
Fumikazu Kojima, Yuji Okamoto, Masahiro Ando, Yujiro Higuchi, Takahiro Hobara, Junhui Yuan, Akiko Yoshimura, Akihiro Hashiguchi, Eiji Matsuura, Hiroshi Takashima