Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature.
Pathogenic variants in the IRF2BPL gene are associated with neurodevelopmental disorders with varying degrees of regression, loss of speech and epilepsy. The phenotype is also known as Neurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures (NEDAMSS). The motor...
| Publicado en: | European Child & Adolescent Psychiatry Vol. 34; no. 3; pp. 835 - 853 |
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| Autores principales: | , , |
| Formato: | case study research systematic review tables/charts Journal Article |
| Publicado: |
Springer Nature
Mar2025
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| Acceso en línea: | Ver este registro en EBSCOhost |