Dystonia and Contractures are Potential Early Signs of CACNA1E-Related Epileptic Encephalopathy
Copyright © 2020 by S. Karger AG, Basel..
Epileptic encephalopathy related to CACNA1E has been described as a severe neurodevelopmental disorder presenting with early-onset refractory seizures, hypotonia, macrocephaly, hyperkinetic movements, and contractures and is associated with an autosomal dominant inheritance pattern. Most pathogenic variants described to date are missense variants with a gain of function effect, and the role of haploinsufficiency has yet to be clarified. We describe 2 cases of CACNA1E encephalopathy. Notable findings include congenital contractures and movement disorders predating onset of epilepsy, particularly dystonia. We further compared the key phenotypic features depending on variant location. In conclusion, the appearance of congenital contractures, areflexia, and movement disorders before the onset of epilepsy may provide key guidance in the diagnosis of epileptic CACNA1E encephalopathy. A genotype-phenotype correlation was found between the presence of movement disorders and severe intellectual disability and the location of the variant in the CACNA1E gene.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:12 |
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| Enthalten in: |
Molecular syndromology - 12(2021), 1 vom: 27. März, Seite 25-32 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ortiz Cabrera, Nelmar V [VerfasserIn] |
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| Links: |
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| Themen: |
CACNA1E |
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| Anmerkungen: |
Date Revised 03.09.2021 published: Print-Electronic Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1159/000511926 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM323324665 |
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| 520 | |a Copyright © 2020 by S. Karger AG, Basel. | ||
| 520 | |a Epileptic encephalopathy related to CACNA1E has been described as a severe neurodevelopmental disorder presenting with early-onset refractory seizures, hypotonia, macrocephaly, hyperkinetic movements, and contractures and is associated with an autosomal dominant inheritance pattern. Most pathogenic variants described to date are missense variants with a gain of function effect, and the role of haploinsufficiency has yet to be clarified. We describe 2 cases of CACNA1E encephalopathy. Notable findings include congenital contractures and movement disorders predating onset of epilepsy, particularly dystonia. We further compared the key phenotypic features depending on variant location. In conclusion, the appearance of congenital contractures, areflexia, and movement disorders before the onset of epilepsy may provide key guidance in the diagnosis of epileptic CACNA1E encephalopathy. A genotype-phenotype correlation was found between the presence of movement disorders and severe intellectual disability and the location of the variant in the CACNA1E gene | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a CACNA1E | |
| 650 | 4 | |a Early onset epileptic encephalopathy | |
| 650 | 4 | |a Exome sequencing | |
| 650 | 4 | |a Intellectual disability | |
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| 700 | 1 | |a Jiménez Legido, María |e verfasserin |4 aut | |
| 700 | 1 | |a Cantarín Extremera, Verónica |e verfasserin |4 aut | |
| 700 | 1 | |a García Peñas, Juan J |e verfasserin |4 aut | |
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