Francesca L. Sciacca

Milan, Italy

Last Updated: 09/26/2026

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Found 28 publications

Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects.

Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects.

Journal: Epilepsia

Published: May 18, 2025

A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.

A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.

Journal: Genes

Published: April 18, 2025

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Journal: Genes

Published: October 11, 2024

Tremulous Dystonia Due to GNAL Haploinsufficiency Caused by 18p Deletion Syndrome.

Tremulous Dystonia Due to GNAL Haploinsufficiency Caused by 18p Deletion Syndrome.

Journal: Journal of movement disorders

Published: March 29, 2024

Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.

Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 04, 2024

Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.

Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.

Journal: Stem cell research

Published: January 04, 2024

22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder.

22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder.

Journal: Psychiatric genetics

Published: December 12, 2023

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus.

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus.

Journal: Frontiers in neurology

Published: April 02, 2023

Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.

Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.

Journal: Neurology. Genetics

Published: October 11, 2022

Rhythmic cortical myoclonus in patients with 6Q22.1 deletion.

Rhythmic cortical myoclonus in patients with 6Q22.1 deletion.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: August 24, 2022

Clinical features and magnesium levels: Novel insights in 15q11.2 BP1-BP2 copy number variants.

Clinical features and magnesium levels: Novel insights in 15q11.2 BP1-BP2 copy number variants.

Journal: Journal of intellectual disability research : JIDR

Published: February 15, 2022

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.

Journal: Stem cell reports

Published: March 14, 2021

Showing 1-12 of 28

Last Updated: 09/26/2026