Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature Ettore CioffiGianluca CoppolaCarlo Casali Review Open access 09 February 2024 Pages: 51 - 67
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review Raffaele FalsaperlaVincenzo SortinoXena Giada Pappalardo Original Article 08 January 2024 Pages: 69 - 78
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy Wejdan HakamiFarah ThabetBrahim Tabarki Original Article 19 January 2024 Pages: 79 - 83
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A Namanpreet KaurKhyati AroraAnju Shukla Original Article 27 January 2024 Pages: 85 - 91
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families Sylvia SafwatKyle P. FlanneryM. Chiara Manzini Original Article Open access 01 February 2024 Pages: 93 - 102
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy Pardis NajafiChristian ReimerClemens Falker-Gieske Original Article Open access 21 February 2024 Pages: 103 - 117
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 TürkyılmazSafiye Güneş SağerYasemin Akın Original Article 22 February 2024 Pages: 119 - 130
Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy Zhi-Jian LinJun-Wei HePeng-Xing Lin Original Article 09 March 2024 Pages: 131 - 139
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery Sokhna Haissatou DiawSylvie DelcambreKatja Lohmann Original Article 18 March 2024 Pages: 141 - 147
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review Fumikazu KojimaYuji OkamotoHiroshi Takashima Short Communication 29 January 2024 Pages: 149 - 156