Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review
| Autor: | Roberto Giorda, Antonio Trabacca, Marta De Rinaldis |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
Mutation Missense Epilepsies Myoclonic medicine.disease_cause Bioinformatics 03 medical and health sciences Epilepsy Peptide Elongation Factor 1 0302 clinical medicine Developmental Neuroscience Intellectual Disability Intellectual disability Humans Medicine Missense mutation Abnormalities Multiple Ictal Child Mutation business.industry Infant General Medicine medicine.disease Hypotonia Phenotype Autism spectrum disorder Child Preschool Pediatrics Perinatology and Child Health Failure to thrive Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Brain and Development. 42:77-82 |
| ISSN: | 0387-7604 |
| Popis: | Background Mutations in the elongation factor 1 alpha 2 (EEF1A2) gene have been recently shown to cause epileptic encephalopathy (MIM # 616409 EIEE33) associated with neurodevelopmental disorders such as intellectual disability, autistic spectrum disorder, hypotonia and dysmorphic facial features. EEF1A2 protein is involved in protein synthesis, suppression of apoptosis, regulation of actin function and cytoskeletal structure. To date, only sixteen patients with EEF1A2 mutations have been reported. Case report We described a new case, a boy with severe intellectual disability with absent speech, autistic spectrum disorder, mild dysmorphic facial features, failure to thrive and epilepsy associated to a de novo heterozygous missense mutation in EEF1A2 (c.364G>A; p.Glu122Lys) identified by next generation sequencing; it was already reported in other studies. Most clinical features are shared by all individuals with EEF1A2 mutation, but unlike others reports our patient showed a mild epileptic phenotype: epilepsy developed in late infancy and was well-controlled with antiepileptic drugs. Moreover, at the onset of epilepsy, interictal wake/sleep electroencephalograms showed typical pattern that disappeared with age. Conclusion This report focused that EEF1A2 mutations should be considered not only in patients with epileptic encephalopathy, but also in those with less severe epilepsy. A typical EEG pattern may be a biomarker for EEF1A2 mutation, but further investigations and longitudinal clinical observations are required. |
| Databáze: | OpenAIRE |
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