Congenital myasthenic syndromes (CMS) are inherited disorders caused by defects in proteins essential for neuromuscular transmission. In this nationwide, multicenter retrospective study, we analyzed 133 genetically confirmed CMS cases from 118 unrelated families between 2017 and 2024 across 28 centers in Türkiye. Clinical, electrophysiological, and genetic data were collected from medical records. In addition, we performed a PubMed-based review of previously reported genetically confirmed Turkish CMS cases to place our findings in a broader national context. The median age at symptom onset, and the median diagnostic delay were 6 months and 24 months, respectively. Ocular involvement was the most common clinical feature, followed by respiratory and bulbar involvement. High consanguinity (82%) contributed to a predominance of homozygous variants. Variants were identified in 16 CMS-associated genes, with COLQ (34.6%), CHRNE (24.1%), and CHAT (12.8%) being the most frequent. Postsynaptic CMS was the most common anatomical subgroup. Eighteen novel variants across 11 genes expanded the mutational spectrum of CMS. Review of 23 previously published studies from Türkiye identified 139 additional genetically confirmed cases, showing a broadly similar genetic distribution, with CHRNE and COLQ predominating, followed by CHAT, whereas other CMS-associated genes were reported only sporadically. >These findings define the clinical and genetic landscape of CMS in Türkiye and, together with previously published Turkish cases, provide a broad national overview based on 272 genetically confirmed cases. The results highlight the major contribution of a limited number of genes and underscore the importance of early molecular diagnosis in a population with high consanguinity.
Canan Üstün, I. Polat, Gülten Öztürk et al.· Neuromuscular Disorders· 0 citations
PURPOSE
Rasmussen encephalitis (RE) is a rare progressive inflammatory disorder characterized by drug-resistant focal epilepsy and unilateral cerebral atrophy. This study aimed to evaluate the longitudinal electroclinical, neuroradiological, treatment, and surgical characteristics of pediatric and adult patients with RE followed at a tertiary referral center.
METHODS
Fourteen patients (10 females) with a median follow-up of 75.5 months were retrospectively reviewed. Clinical characteristics, serial electroencephalography (EEG), brain magnetic resonance imaging (MRI), immunotherapy regimens, surgical interventions, and seizure outcomes were analyzed.
RESULTS
Median age at symptom onset was 102 months. Focal motor seizures were the initial presenting symptom in 86% of patients, and epilepsia partialis continua developed in 57%. Serial EEG demonstrated progression from focal epileptiform abnormalities to regional and hemispheric slowing confined to the affected hemisphere. Left-hemispheric involvement was observed in 71% of patients in this relatively older cohort. Initial MRI frequently demonstrated cortico-subcortical T2-weighted and fluid-attenuated inversion recovery (FLAIR) hyperintensities preceding progressive cortical atrophy. Serial MRI revealed heterogeneous radiological evolution, including diffuse hemispheric and limited regional cortical atrophy patterns. Despite immunotherapy, most patients showed progressive disease and refractory seizures. Hemispherectomy resulted in seizure freedom in two of three operated patients.
CONCLUSION
RE demonstrated heterogeneous electroclinical and neuroradiological evolution across pediatric and adult patients. The coexistence of an older age profile and a predominance of left hemisphere involvement may suggest age-related phenotypic variability. Early MRI abnormalities may precede overt hemispheric atrophy, highlighting the importance of longitudinal evaluation for timely diagnosis. Although immunotherapy may provide temporary stabilization, surgical treatment appears to provide the most favorable seizure outcomes in selected patients.
Ülkühan Öztoprak, C. Günbey, Rahşan Göçmen et al.· Brain & development (Tokyo....· 0 citations
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