Other genetic epilepsy syndromes
Evidence-based neurology checklist on other genetic epilepsy syndromes: ADGRV1 gene mutation: features Epilepsy Myoclonic epilepsy Intellectual disability MEF2C gene mutation: features X-linked parkinsonism with spasticity (XPDS) MEHMO syndrome: features RYR2 gene mutation Other gene mutation…
ADGRV1 gene mutation: features
- Epilepsy
- Myoclonic epilepsy
- Intellectual disability
MEF2C gene mutation: features
X-linked parkinsonism with spasticity (XPDS)
MEHMO syndrome: features
RYR2 gene mutation
Other gene mutation syndromes
References
- Myers KA, Nasioulas S, Boys A, et al. ADGRV1 is implicated in myoclonic epilepsy. Epilepsia 2018; 59:381-388.
- Nowakowska BA, Obersztyn E, Szymańska K, et al. Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. Am J Med Genet B Neuropsychiatr Genet 2010; 153B:1042-1051.
- Korvatska O, Strand NS, Berndt JD, et al. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS) Hum Mol Genet 2013; 22:3259-3268.
- Gupta HV, Vengoechea J, Sahaya K, Virmani T. A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism. Parkinsonism Relat Disord 2015; 21:1473-1475.
- Skopkova M, Hennig F, Shin BS, et al. EIF2S3 mutations associated with severe X-linked intellectual disability syndrome MEHMO. Hum Mutat 2017; 38:409-425.
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