SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features
Pathogenic variants of the <i>SCN2A</i> gene (MIM 182390) are associated with several epileptic syndromes ranging from benign familial neonatal-infantile seizures (BFNIS) to early infantile epileptic encephalopathy. The aim of this work was to describe clinical features among five patien...
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MDPI AG
2021-12-01
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| Online Access: | https://www.mdpi.com/2076-3425/12/1/18 |
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| author | Roberta Epifanio Roberto Giorda Maria Carolina Merlano Nicoletta Zanotta Romina Romaniello Susan Marelli Silvia Russo Francesca Cogliati Maria Teresa Bassi Claudio Zucca |
| author_facet | Roberta Epifanio Roberto Giorda Maria Carolina Merlano Nicoletta Zanotta Romina Romaniello Susan Marelli Silvia Russo Francesca Cogliati Maria Teresa Bassi Claudio Zucca |
| author_sort | Roberta Epifanio |
| collection | DOAJ |
| description | Pathogenic variants of the <i>SCN2A</i> gene (MIM 182390) are associated with several epileptic syndromes ranging from benign familial neonatal-infantile seizures (BFNIS) to early infantile epileptic encephalopathy. The aim of this work was to describe clinical features among five patients with concomitant <i>SCN2A</i> gene variants and cryptogenic epileptic syndromes, thus expanding the <i>SCN2A</i> spectrum of phenotypic heterogeneity. <i>De novo</i> variants were identified in four patients, while one inherited variant was identified in a patient with an unaffected carrier biological father with somatic mosaicism. Two of five patients were diagnosed with a neonatal epileptic encephalopathy. The remaining three patients manifested a focal epileptic syndrome associated with autistic spectrum disorders (ASD) or with a variable degree of intellectual disability (ID), one of them displaying a hitherto unreported atypical late onset epilepsy. Overall, the pattern of clinical manifestations among these patients suggest that any observed neurological impairment may not be directly related to the severity of the electroclinical pattern, but instead likely associated with the mutation itself. Moreover, our results highlight the importance of <i>SCN2A</i> mutational screening in cases of ID/ASD with or without epilepsy. |
| first_indexed | 2024-03-10T01:48:55Z |
| format | Article |
| id | doaj.art-47a2f2a651dd43c59bfe1f89a7637e7e |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T01:48:55Z |
| publishDate | 2021-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-47a2f2a651dd43c59bfe1f89a7637e7e2023-11-23T13:08:48ZengMDPI AGBrain Sciences2076-34252021-12-011211810.3390/brainsci12010018SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic FeaturesRoberta Epifanio0Roberto Giorda1Maria Carolina Merlano2Nicoletta Zanotta3Romina Romaniello4Susan Marelli5Silvia Russo6Francesca Cogliati7Maria Teresa Bassi8Claudio Zucca9Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, ItalyMolecular Biology Laboratory, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, ItalyRoyal University Hospital, University of Saskatchewan, Saskatoon, SK S7N 0W8, CanadaClinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, ItalyClinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, ItalyClinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, ItalyCytogenetics and Molecular Genetics Laboratory, Istituto Auxologico Italiano IRCCS, 20145 Milan, MI, ItalyCytogenetics and Molecular Genetics Laboratory, Istituto Auxologico Italiano IRCCS, 20145 Milan, MI, ItalyMolecular Biology Laboratory, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, ItalyClinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, ItalyPathogenic variants of the <i>SCN2A</i> gene (MIM 182390) are associated with several epileptic syndromes ranging from benign familial neonatal-infantile seizures (BFNIS) to early infantile epileptic encephalopathy. The aim of this work was to describe clinical features among five patients with concomitant <i>SCN2A</i> gene variants and cryptogenic epileptic syndromes, thus expanding the <i>SCN2A</i> spectrum of phenotypic heterogeneity. <i>De novo</i> variants were identified in four patients, while one inherited variant was identified in a patient with an unaffected carrier biological father with somatic mosaicism. Two of five patients were diagnosed with a neonatal epileptic encephalopathy. The remaining three patients manifested a focal epileptic syndrome associated with autistic spectrum disorders (ASD) or with a variable degree of intellectual disability (ID), one of them displaying a hitherto unreported atypical late onset epilepsy. Overall, the pattern of clinical manifestations among these patients suggest that any observed neurological impairment may not be directly related to the severity of the electroclinical pattern, but instead likely associated with the mutation itself. Moreover, our results highlight the importance of <i>SCN2A</i> mutational screening in cases of ID/ASD with or without epilepsy.https://www.mdpi.com/2076-3425/12/1/18geneticsepilepsy<i>SCN2A</i> geneautistic spectrum disorderepileptic encephalopathy |
| spellingShingle | Roberta Epifanio Roberto Giorda Maria Carolina Merlano Nicoletta Zanotta Romina Romaniello Susan Marelli Silvia Russo Francesca Cogliati Maria Teresa Bassi Claudio Zucca SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features Brain Sciences genetics epilepsy <i>SCN2A</i> gene autistic spectrum disorder epileptic encephalopathy |
| title | SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features |
| title_full | SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features |
| title_fullStr | SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features |
| title_full_unstemmed | SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features |
| title_short | SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features |
| title_sort | scn2a pathogenic variants and epilepsy heterogeneous clinical genetic and diagnostic features |
| topic | genetics epilepsy <i>SCN2A</i> gene autistic spectrum disorder epileptic encephalopathy |
| url | https://www.mdpi.com/2076-3425/12/1/18 |
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