Massimo Carella

San Giovanni Rotondo, Italy

Last Updated: 09/26/2026

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Found 183 publications

Correction: Precision management of cenobamate in drug-resistant epilepsy: integrating pharmacogenetics, therapeutic drug monitoring, and real-world clinical strategies.

Correction: Precision management of cenobamate in drug-resistant epilepsy: integrating pharmacogenetics, therapeutic drug monitoring, and real-world clinical strategies.

Journal: Frontiers in pharmacology

Published: July 16, 2026

From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte Dravet.

From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte Dravet.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: May 29, 2026

Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.

Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.

Journal: Epilepsia open

Published: May 10, 2026

Identification of a large DPYD gene deletion undetected by standard genotyping in a patient with severe capecitabine-related toxicity: a case report.

Identification of a large DPYD gene deletion undetected by standard genotyping in a patient with severe capecitabine-related toxicity: a case report.

Journal: Frontiers in pharmacology

Published: April 27, 2026

Sustained seizure reduction, treatment simplification, and high retention with cenobamate: A 12-month real-world study in refractory and ultra-refractory focal epilepsy.

Sustained seizure reduction, treatment simplification, and high retention with cenobamate: A 12-month real-world study in refractory and ultra-refractory focal epilepsy.

Journal: Epilepsia open

Published: March 30, 2026

A 350 kb NEXMIF Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome.

A 350 kb NEXMIF Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome.

Journal: Genes

Published: March 23, 2026

Precision management of cenobamate in drug-resistant epilepsy: integrating pharmacogenetics, therapeutic drug monitoring, and real-world clinical strategies.

Precision management of cenobamate in drug-resistant epilepsy: integrating pharmacogenetics, therapeutic drug monitoring, and real-world clinical strategies.

Journal: Frontiers in pharmacology

Published: March 13, 2026

A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation.

A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation.

Journal: Molecular genetics and metabolism

Published: March 06, 2026

Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.

Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: November 21, 2025

The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.

The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.

Journal: American journal of medical genetics. Part A

Published: July 17, 2025

Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

Journal: American journal of medical genetics. Part A

Published: June 05, 2025

Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?

Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?

Journal: Frontiers in genetics

Published: May 10, 2025

Showing 1-12 of 183

Last Updated: 09/26/2026