Epileptic Disorders
MENUA de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS) Volume 22, issue 4, August 2020
- [Boyd et al., 1986] Boyd S.G., Harden A., Egger J., Pampiglione G. Progressive neuronal degeneration of childhood with liver disease (Alpers’ disease”): characteristic neurophysiological features. Neuropediatrics. 1986;17:75-80. “
2 - [Donaldson et al., 2012] Donaldson I., Marsden C.D., Schneider S. Marsden's book of movement disorders. Oxford University Press; 2012.
- [Hallett et al., 1979] Hallett M., Chadwick D., Marsden C.D. Cortical reflex myoclonus. Neurology. 1979;29:1107-25.1.
8 - [Hamdan et al., 2017] Hamdan F.F., Myers C.T., Cossette P. High rate of recurrent mutations in developmental and epileptic encephalopathies. Am J Hum Genet. 2017;101:664-685. de novo
5 - [Harding et al., 1986] Harding B.N., Egger J., Portmann B., Erdohazi M. Progressive neuronal degeneration of childhood with liver disease. A pathological study. Brain. 1986;109:181-206.
1 - [Ishii et al., 2017] Ishii A., Kang J.Q., Schornak C.C. A missense mutation of causes early myoclonic encephalopathy. J Med Genet. 2017;54:202-211. de novoGABRB2
3 - [Karczewski et al., 2019] Karczewski K.J., Francioli L.C., Tiao G. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. bioRxiv. 2019. 10.1101/531210
- [Lamperti and Zeviani, 2016] Lamperti C., Zeviani M. Myoclonus epilepsy in mitochondrial disorders. Epileptic Disord. 2016;18:94-102.
S2 - [May et al., 2018] May P., Girard S., Harrer M. Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol. 2018;17:699-708. A
8 - [Nakashima et al., 2019] Nakashima M., Tohyama J., Nakagawa E. Identification of and variants in cases of global developmental delay with seizures. J Hum Genet. 2019;64:313-322. de novo CSNK2A1CSNK2B
4 - [Richards et al., 2015] Richards S., Aziz N., Bale S. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-424.
5 - [Rose and Al Khalili, 2019] Rose HR, Al Khalili Y. Alpers-Huttenlochen syndrome (AHS, Alper Disease). StatPearls. Treasure Island (FL), 2019.
- [Saneto et al., 2010] Saneto R.P., Lee I.C., Koenig M.K. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure. 2010;19:140-146.
3 - [Sofou et al., 2012] Sofou K., Moslemi A.R., Kollberg G. Phenotypic and genotypic variability in Alpers syndrome. Eur J Paediatr Neurol. 2012;16:379-389.
4 - [van Westrhenen et al., 2018] van Westrhenen A., Cats E.A., van den Munckhof B. Specific EEG markers in Alpers’ syndrome. Clin Neurophysiol. 2018;129:2127-2131. POLG1
10 - [Wolf et al., 2009] Wolf N.I., Rahman S., Schmitt B. Status epilepticus in children with Alpers’ disease caused by mutations: EEG and MRI features. Epilepsia. 2009;50:1596-1607. POLG1
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