CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia

CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia

Abstract Background Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions characterized by impairments in motor, cognitive, and behavioral functions. Despite advances in genomic sequencing, the genetic basis of many NDDs remains unexplored. CCDC82 encodes a coiled-coil domain-c...

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Main Authors: Zahra Safarian, Shiva Mehrabi, Arghavan Rakhshani Nejad, Sajad Alavimanesh, Pegah Kavousinia, Mohammad Hossein Shushizadeh, Seyedeh Faezeh Hassani, Latifeh Onagh, Abdolazim Sarli, Nahid Rezaie
Format: Article
Language:English
Published: BMC 2025-08-01
Series:BMC Medical Genomics
Subjects:
CCDC82
Neurodevelopmental disorder
Hypotonia
Epilepsy
Whole-exome sequencing
Genetic variant
Online Access:https://doi.org/10.1186/s12920-025-02201-9
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https://doi.org/10.1186/s12920-025-02201-9

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