Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gen
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LETTER TO THE EDITOR
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene Marianna Alagia 1 & Pia Bernardo 1,2 & Rita Genesio 3 & Elena Gennaro 4 & Nicola Brunetti-Pierri 5 & Antonietta Coppola 6 & Federico Zara 4 & Pasquale Striano 7 & Salvatore Striano 6 & Gaetano Terrone 1 Received: 21 June 2020 / Accepted: 10 November 2020 # Fondazione Società Italiana di Neurologia 2020
Keywords Developmental and epileptic encephalopathy . SCN8A gene . 1p13.2 microdeletion syndrome . NRAS gene
To the Editor: Recently, the coexistence of multiple diagnoses in children with complex neurodevelopmental disorders is increasingly diagnosed due to the wide availability of pan-genomic analyses. In the field of epilepsy genetics, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes [1]. Comparative genomic hybridization (CGH)-array remains the first diagnostic tool in patients with intellectual disability, dysmorphic signs, and undefined epilepsy syndrome while next-generation sequencing (NGS) targeted panel is recommended in subjects with early-onset developmental and epileptic encephalopathy (DEE). Here, we describe a child with an early-onset DEE caused by a pathogenic variant in sodium voltage-gated channel alpha subunit 8 (SCN8A) gene,
* Gaetano Terrone [email protected] 1
Department of Translational Medical Sciences, Child Neurology, University of Naples Federico II, Naples, Italy
2
Pediatric Neurology and Psychiatric, Department of Pediatric Neurosciences, Santobono-Pausilipon Children’s Hospital, Naples, Italy
3
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy
4
Human Genetic Laboratory, “G. Gaslini” Institute, University of Genoa, Genoa, Italy
5
Department of Translational Medical Sciences, University of Naples Federico II, and Telethon Institute of Genetics and Medicine, Naples, Italy
6
Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy
7
Pediatric Neurology and Muscular Diseases Unit, Departments of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, “G. Gaslini” Institute, University of Genoa, Genoa, Italy
inherited by his mother—also suffering from infant-onset epilepsy—complicated by a de novo deletion of 1p13.2 involving Neuroblastoma RAS viral oncogene homolog (NRAS) gene, responsible for a Noonan-like syndrome. The patient is a 3-year-old boy first born of non-consanguineous parents. His mother had a history of early-onset epilepsy starting at 7 months of life treated with phenobarbital. She experienced focal motor seizures and from the adolescence, temporal seizures characterized by auditory and visual hallucinations and feelings of dejà-vu with epigastric sensation. At 21 years of age, she developed a convulsive status epilepticus. Her EEG showed epileptic abnormalities over the left hemisphere. She was treated with oxc
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