1. Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature

   • Ettore Cioffi
   • Gianluca Coppola
   • Carlo Casali

   Review Open access 09 February 2024 Pages: 51 - 67

   

2. 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
   • Xena Giada Pappalardo

   Original Article 08 January 2024 Pages: 69 - 78

   

3. Bi-allelic variants in HCRT cause autosomal recessive narcolepsy

   • Wejdan Hakami
   • Farah Thabet
   • Brahim Tabarki

   Original Article 19 January 2024 Pages: 79 - 83

   

4. Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A

   • Namanpreet Kaur
   • Khyati Arora
   • Anju Shukla

   Original Article 27 January 2024 Pages: 85 - 91

   

5. Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families

   • Sylvia Safwat
   • Kyle P. Flannery
   • M. Chiara Manzini

   Original Article Open access 01 February 2024 Pages: 93 - 102

   

6. Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy

   • Pardis Najafi
   • Christian Reimer
   • Clemens Falker-Gieske

   Original Article Open access 21 February 2024 Pages: 103 - 117

   

7. 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
   • Yasemin Akın

   Original Article 22 February 2024 Pages: 119 - 130

8. Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy

   • Zhi-Jian Lin
   • Jun-Wei He
   • Peng-Xing Lin

   Original Article 09 March 2024 Pages: 131 - 139

   

9. DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery

   • Sokhna Haissatou Diaw
   • Sylvie Delcambre
   • Katja Lohmann

   Original Article 18 March 2024 Pages: 141 - 147

   

10. A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review

    • Fumikazu Kojima
    • Yuji Okamoto
    • Hiroshi Takashima

    Short Communication 29 January 2024 Pages: 149 - 156