Mowat Wilson syndrome: neurological features
Evidence-based neurology checklist on mowat wilson syndrome: neurological features: Genetics This is caused by mutations or deletions in the ZEB2 gene Most cases are sporadic Facial dysmorphism Epilepsy Other neurological features Magnetic resonance imaging (MRI): features Electroencephalogram…
Genetics
- This is caused by mutations or deletions in the ZEB2 gene
- Most cases are sporadic
Facial dysmorphism
Epilepsy
Other neurological features
Magnetic resonance imaging (MRI): features
Electroencephalogram (EEG)
Anti-epileptic drug (AED) treatment
References
- Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis 2007; 2:42.
- Garavelli L, Zollino M, Mainardi PC, et al. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A 2009; 149A:417-426.
- Ivanovski I, Djuric O, Caraffi SG, et al. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genet Med 2018; doi: 10.1038/gim.2017.221 (Epub ahead of print).
- Ricci E, Fetta A, Garavelli L, et al. Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals. Epilepsy Behav 2021 (Online ahead of print).
- Seo SE, Kim SH, Lee ST, Choi JR, Lee JS, Kim HD, Kang HC. Mowat-Wilson syndrome presenting with fever-associated seizures. Epileptic Disord 2017; 19:481-485.
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