Congenital myasthenic syndromes (CMSs) are genetic disorders affecting motor function with variable symptoms. RAPSN-related CMS, caused by mutations in the RAPSN gene, leads to muscle weakness. Accurate diagnosis is essential for proper management. This study aims to analyze six Iranian families affected by RAPSN-CMS, focusing on clinical manifestations, genetic variants, treatment response, and outcomes. Clinical assessments, genetic analysis, and whole-exome sequencing were performed on the six families to identify RAPSN gene mutations. The study examined symptoms, disease severity, age of onset, treatment response, and outcomes. Treatment with pyridostigmine and salbutamol was given to assess its effectiveness. Three homozygous known variants in RAPSN gene were identified: c.491G > A in three families, c.264 C > A in two families, and c.-210 A > G in one family. Clinical assessments showed diversity in symptoms and treatment responses. Pyridostigmine and salbutamol treatment improved symptoms and quality of life. This study highlights the significance of molecular diagnosis for RAPSN-related congenital myasthenic syndromes (CMS) in Iran, marking the first comprehensive genetic analysis in the region. The identification of specific pathogenic variants underscores the unique genetic landscape of local patients. Furthermore, our long-term follow-up revealed variable treatment responses, emphasizing the need for personalized care strategies. The clinical variability among patients with identical mutations necessitates a multidisciplinary approach for effective management. By enhancing genetic awareness and refining follow-up methods, we aim to improve diagnosis accuracy and interventions, fostering better outcomes for affected families in the Iranian population.

Aida Ghasemi

Seyed Jalaleddin Hadei

Sara KamaliZonouzi

Amene Shahrokhi

Hossein Najmabadi

Shahriar Nafissi

Neurogenetics

神经遗传学发表的研究结果有助于更好地理解神经系统正常和异常功能的遗传基础。神经遗传疾病是该杂志的主要关注点。因此，神经遗传学包括人类和其他生物体的发现，这些发现有助于了解神经疾病机制，并发表来自许多不同领域的论文，例如生物物理学、细胞生物学、人类遗传学、神经解剖学、神经化学、神经学、神经病理学、神经外科和精神病学。提交给神经遗传学的所有论文都应具有足够的直接重要性以证明紧急出版的正当性。他们应该展示新的科学成果。仅证实先前发表的研究结果的数据是不可接受的。

The journal Neurogenetics publishes research findings that contribute to a better understanding of the genetic basis of normal and abnormal functions of the nervous system. The primary focus of the journal is on neurogenetic disorders, encompassing discoveries in humans and other organisms that help elucidate the mechanisms of neurological diseases. It accepts papers from various fields, including biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery, and psychiatry. All submissions to Neurogenetics should possess sufficient direct significance to justify the urgency of publication and should present new scientific findings. Data that merely confirm previously published results are not acceptable.

《Neurogenetics》期刊发表的研究成果有助于深入理解神经系统正常与异常功能的遗传基础。该期刊主要关注神经遗传疾病，涵盖人类及其他生物体的发现，这些发现有助于揭示神经疾病的机制。期刊接受来自多个领域的论文，包括生物物理学、细胞生物学、人类遗传学、神经解剖学、神经化学、神经学、神经病理学、神经外科和精神病学。所有提交给《Neurogenetics》的论文都应具有足够的直接重要性，以证明其紧急出版的必要性，并展示新的科学成果。仅仅证实先前发表研究结果的数据是不被接受的。

Category	Quartile
医学	4
医学, 临床神经病学	4
医学, 遗传学	4

Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome

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Journal Info

Category	Quartile
GENETICS & HEREDITY	3