<i>KIF5C</i> -Related Neurodevelopmental Disorder
Pathogenic variants in KIF5C, encoding a neuronal kinesin motor protein, cause a rare neurodevelopmental disorder characterized by profound global developmental delay/intellectual disability mainly associated with absent speech and severe motor disability, epilepsy, and behavioral problems.
Authors
- Anna Pichiecchio (ORCID: https://orcid.org/0000-0002-5654-4088)
- Simona Orcesi (ORCID: https://orcid.org/0000-0001-8947-9342)
- Elena Tartara (ORCID: https://orcid.org/0000-0003-1656-5420)
- Simone Gana (ORCID: https://orcid.org/0000-0001-6544-7135)
- Davide Politano (ORCID: https://orcid.org/0000-0002-3795-1972)
- Edoardo Errichiello (ORCID: https://orcid.org/0000-0001-6346-1988)
- Valentina Serpieri (ORCID: https://orcid.org/0000-0002-3553-0066)
- Elisa Rognone (ORCID: https://orcid.org/0009-0008-7627-5613)
- Cecilia Parazzini (ORCID: https://orcid.org/0000-0003-0364-8673)
- Enza Maria Valente (ORCID: https://orcid.org/0000-0002-0600-6820)
- Davide Tonduti (ORCID: https://orcid.org/0000-0001-9371-7454)
Institutions
- University of Milan (IT)
- University of Pavia (IT)
- Foundation Center (US)
- Urology Foundation (GB)
- Ospedale dei Bambini Vittore Buzzi (IT)
- International Centre for Genetic Engineering and Biotechnology (IT)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-05-12
- DOI
- https://doi.org/10.1212/nxg.0000000000200395
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00