Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
- Authors
- Babkina, Natalia; Deignan, Joshua L; Lee, Hane; Vilain, Eric; Sankar, Raman; Giurgea, Irina; Mowat, David; Graham, John M
- Year
- 2016
- Journal
- European journal of medical genetics
- PMID
- 26721324
- DOI
- 10.1016/j.ejmg.2015.12.006
Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures, a burst-suppression EEG pattern, and progressive disturbance of cerebral function. We present a case of EIEE associated with a de novo missense variant in ZEB2. Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient. This unique case expands the range of phenotypes associated with variants in ZEB2 and indicates that this gene should be included in the molecular investigation of EIEE cases.
No figures extracted from this document.
No chunks — full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
No citations found.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| A genome wide association study of fast beta EEG in families of European ancestry. | 2017 | 28040410 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| The global research hotspots and future trends of infantile epileptic spasms syndrome: A bibliometric analysis of trends and themes. | Wang Z et al. | — | 2026 | → |
| Decreased in vivo glutamate/GABA ratio correlates with the social behavior deficit in a mouse model of autism spectrum disorder. | Park G et al. | — | 2022 | → |
| Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals. | Ricci E et al. | — | 2021 | → |
| Neurological Phenotype of Mowat-Wilson Syndrome. | Cordelli DM et al. | — | 2021 | → |
| New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies. | Magalhães PHM et al. | — | 2021 | → |
| Analysis of gene variants in the GASH/Sal model of epilepsy. | Díaz-Casado E et al. | — | 2020 | → |
| A genome wide association study of fast beta EEG in families of European ancestry. | Meyers JL et al. | — | 2017 | → |
| Mowat-Wilson syndrome presenting with fever-associated seizures. | Seo SE et al. | — | 2017 | → |