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Pierre Cacciagli

Aix-Marseille University

28

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779

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

2020 Archives De Pediatrie
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Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria.

2020 European Journal of Human Genetics
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Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures

2019 Epilepsia
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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9 -associated intellectual disability

2018 European Journal of Human Genetics
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Early-onset epileptic encephalopathies with “suppression-burst” EEG pattern: Genetic characterization of a European cohort of 70 patients.

2017 European Journal of Paediatric Neurology
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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

2017 European Journal of Paediatric Neurology
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Severe neonatal seizures: From molecular diagnosis to precision therapy?

2016 Revue Neurologique
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Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

2016 European Journal of Human Genetics
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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

2015 Molecular Cytogenetics
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Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

2015 Epilepsy Research
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