Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Jan 29, 2024

Experts: Benedetta Cavirani,Carlotta Spagnoli,Stefano Giuseppe Caraffi,Anna Cavalli,Carlo Alberto Cesaroni,Gianni Cutillo,Valentina De Giorgis,Daniele Frattini,Giulia Bruna Marchetti,Silvia Masnada,Angela Peron,Susanna Rizzi,Costanza Varesio,Luigina Spaccini,Aglaia Vignoli,Maria Paola Canevini,Pierangelo Veggiotti,Livia Garavelli,Carlo Fusco

The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their outcomes vary from benign to severe disability. In this paper, we wished to retrospectively review the clinical, genetic, EEG, neuroimaging, and outcome data of patients experiencing the onset of epilepsy in the first three years of life, diagnosed and followed up in four Italian epilepsy centres (Epilepsy Centre of San Paolo University Hospital in Milan, Child Neurology and Psychiatry Unit of AUSL-IRCCS di Reggio Emilia, Pediatric Neurology Unit of Vittore Buzzi Children’s Hospital, Milan, and Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia). We included 168 patients (104 with monogenic conditions, 45 with copy number variations (CNVs) or chromosomal abnormalities, and 19 with variants of unknown significance), who had been followed up for a mean of 14.75 years. We found a high occurrence of generalized seizures at onset, drug resistance, abnormal neurological examination, global developmental delay and intellectual disability, and behavioural and psychiatric comorbidities. We also documented differing presentations between monogenic issues versus CNVs and chromosomal conditions, as well as atypical/rare phenotypes. Genetic early-childhood-onset epilepsies and DEE show a very wide phenotypic and genotypic spectrum, with a high risk of complex neurological and neuropsychiatric phenotypes.

Author

admin

View all posts

ABOUT THE EXPERTS

Benedetta Cavirani,Carlotta Spagnoli,Stefano Giuseppe Caraffi,Anna Cavalli,Carlo Alberto Cesaroni,Gianni Cutillo,Valentina De Giorgis,Daniele Frattini,Giulia Bruna Marchetti,Silvia Masnada,Angela Peron,Susanna Rizzi,Costanza Varesio,Luigina Spaccini,Aglaia Vignoli,Maria Paola Canevini,Pierangelo Veggiotti,Livia Garavelli,Carlo Fusco

Benedetta Cavirani

Child Neuropsychiatry Unit, Azienda USL di Parma, 43121 Parma, Italy.

Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.

Carlotta Spagnoli

Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.

Stefano Giuseppe Caraffi

Medical Genetics Unit, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.

Anna Cavalli

Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.

Carlo Alberto Cesaroni

Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.

Gianni Cutillo

Pediatric Neurology Unit, Department of Pediatric Neurology, Buzzi Children’s Hospital, 20154 Milan, Italy.

Valentina De Giorgis

Department of Brain and Behavioural Sciences, University of Pavia, 27100 Pavia, Italy.

Department of Child Neurology and Psychiatriy, IRCCS Mondino Foundation, ERN-Epicare, 27100 Pavia, Italy.

Daniele Frattini

Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.

Giulia Bruna Marchetti

Medical Genetics Unit, Woman-Child-Newborn Department, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Silvia Masnada

Pediatric Neurology Unit, Department of Pediatric Neurology, Buzzi Children’s Hospital, 20154 Milan, Italy.

Angela Peron

Medical Genetics, Meyer Children’s Hospital IRCCS, 50139 Florence, Italy.

Department of Experimental and Clinical Biomedical Sciences “Mario Serio”, Università degli Studi di Firenze, 50121 Florence, Italy.

Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142 Milan, Italy.

Susanna Rizzi

Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.

Costanza Varesio

Department of Brain and Behavioural Sciences, University of Pavia, 27100 Pavia, Italy.

Department of Child Neurology and Psychiatriy, IRCCS Mondino Foundation, ERN-Epicare, 27100 Pavia, Italy.

Luigina Spaccini

Clinical Genetics Unit, Department of Obstetrics and Gynecology, V. Buzzi Children’s Hospital, University of Milan, 20157 Milan, Italy.

Aglaia Vignoli

Child Neuropsychiatry Unit-Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142 Milan, Italy.

Department of Health Sciences, University of Milan, 20157 Milan, Italy.

Maria Paola Canevini

Child Neuropsychiatry Unit-Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142 Milan, Italy.

Department of Health Sciences, University of Milan, 20157 Milan, Italy.

Pierangelo Veggiotti

Pediatric Neurology Unit, Department of Pediatric Neurology, Buzzi Children’s Hospital, 20154 Milan, Italy.

Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy.

Livia Garavelli

Medical Genetics Unit, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.

Carlo Fusco

Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.