Pierre Cacciagli

Marseille, France

Last Updated: 09/26/2026

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Found 23 publications

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology
Published: May 26, 2026

Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

Journal: Human molecular genetics
Published: July 26, 2023

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

Journal: Epilepsia
Published: November 10, 2022

TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.

TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.

Journal: Journal of medical genetics
Published: September 27, 2022

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria.

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria.

Journal: European journal of human genetics : EJHG
Published: August 27, 2019

The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.

The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: June 25, 2018

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Journal: Epilepsia
Published: April 13, 2018

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.

Journal: Human mutation
Published: February 01, 2018

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

Journal: European journal of human genetics : EJHG
Published: March 28, 2017

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 30, 2016

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Journal: American journal of medical genetics. Part A
Published: May 23, 2016

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Journal: Epilepsia
Published: September 11, 2015
Showing 1-12 of 23

Last Updated: 09/26/2026