Susanna Rizzi

Reggio Nell'emilia, 42123, Italy

Last Updated: 09/26/2026

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Found 56 publications

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports.

Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports.

Journal: Journal of clinical medicine

Published: March 26, 2026

PANDAS Syndrome: A Narrative Review of the Diagnostic Conundrum in Children with Acute Neuropsychiatric Symptoms.

PANDAS Syndrome: A Narrative Review of the Diagnostic Conundrum in Children with Acute Neuropsychiatric Symptoms.

Journal: International journal of molecular sciences

Published: March 12, 2026

A Systematic Review about Neuropathies in Spinal Muscular Atrophy (SMA): Current Insights and Future Directions.

A Systematic Review about Neuropathies in Spinal Muscular Atrophy (SMA): Current Insights and Future Directions.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: March 03, 2026

The Criss-Cross Gait Is Not Child's Play.

The Criss-Cross Gait Is Not Child's Play.

Journal: Movement disorders clinical practice

Published: November 03, 2025

Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.

Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.

Journal: Journal of clinical medicine

Published: October 29, 2025

A Boy with a Novel Variant in TCF20: An Expanded Phenotype and a Brief Review of the Literature.

A Boy with a Novel Variant in TCF20: An Expanded Phenotype and a Brief Review of the Literature.

Journal: Children (Basel, Switzerland)

Published: October 09, 2025

PMP22-Related Neuropathies: A Systematic Review.

PMP22-Related Neuropathies: A Systematic Review.

Journal: Genes

Published: September 29, 2025

Paroxysmal Dyskinesias in Paediatric Age: A Systematic Review.

Paroxysmal Dyskinesias in Paediatric Age: A Systematic Review.

Journal: Journal of clinical medicine

Published: June 15, 2025

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: February 17, 2025

Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.

Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: December 19, 2024

A Novel Variant in the SUOX Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency.

A Novel Variant in the SUOX Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: December 16, 2024

Showing 1-12 of 56

Last Updated: 09/26/2026