Article
Genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort: insights from whole-exome sequencing.
Neurogenetics - 30 May 2026
Chaudhuri Jasodhara, Sadhukhan Dipanwita, Karmakar Amrita, Mukherjee Joydeep, Gupta Soma, Roy Saranya, Das Kallol, Jayswal Shashi Shekhar, Maity Debasis, Mondal Souvik, Sen Bonny, Manna Akash, Mandal Manamita, Ghosh Kartik Chandra, Biswas Samar, Mishra Amar Kumar, Gangully Gautam, Biswas Atanu, Pal Priyankar, Ghosh Apurba, Biswas Arindam
Abstract excerpt
Rare neurogenetic and neurometabolic disorders comprise a clinically and genetically heterogeneous group of conditions, frequently presenting with overlapping neurological manifestations such as developmental delay, seizures, and cognitive impairment. Whole-exome sequencing (WES) has emerged as a robust approach for elucidating the molecular basis of these disorders. A total of 184 patients with suspected rare...
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