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- Title
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.
- Authors
Alagia, Marianna; Bernardo, Pia; Genesio, Rita; Gennaro, Elena; Brunetti-Pierri, Nicola; Coppola, Antonietta; Zara, Federico; Striano, Pasquale; Striano, Salvatore; Terrone, Gaetano
- Abstract
Keywords: Developmental and epileptic encephalopathy; SCN8A gene; 1p13.2 microdeletion syndrome; NRAS gene EN Developmental and epileptic encephalopathy SCN8A gene 1p13.2 microdeletion syndrome NRAS gene 2115 2117 3 04/15/21 20210501 NES 210501 B To the Editor: b Recently, the coexistence of multiple diagnoses in children with complex neurodevelopmental disorders is increasingly diagnosed due to the wide availability of pan-genomic analyses. Here, we describe a child with an early-onset DEE caused by a pathogenic variant in sodium voltage-gated channel alpha subunit 8 ( I SCN8A) i gene, 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 ( I NRAS) i gene, responsible for a Noonan-like syndrome.
- Subjects
GENES; DUAL diagnosis; NOONAN syndrome; SEIZURES (Medicine); CONGENITAL hip dislocation; GENETIC disorders
- Publication
Neurological Sciences, 2021, Vol 42, Issue 5, p2115
- ISSN
1590-1874
- Publication type
Letter
- DOI
10.1007/s10072-020-04898-1