I E Scheffer
Affiliation: University of Melbourne
- Myers K, McMahon J, Mandelstam S, Mackay M, Kalnins R, Leventer R, et al. Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases. Pediatrics. 2017;139: pubmed publisher..This potentially remediable complication may be a significant contributor to the early mortality of DS. ..
- Myers K, Scheffer I. Myoclonic Absence Seizures in Dravet Syndrome. Pediatr Neurol. 2017;70:67-69 pubmed publisher..This rare seizure type may be underreported in Dravet syndrome, as the myoclonic features may be subtle and can be missed if thorough history taking and video recordings are not available. ..
- Myers K, Scheffer I. Myoclonic absence seizures with complex gestural automatisms. Eur J Paediatr Neurol. 2018;22:532-535 pubmed publisher..Ictal EEGs showed 3 Hz generalized spike-wave. Complex automatisms have not been described in myoclonic absence seizures. This generalized seizure type can be confused with focal seizures when these ictal behaviours occur. ..
- Carvill G, McMahon J, Schneider A, Zemel M, Myers C, Saykally J, et al. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet. 2015;96:808-15 pubmed publisher..Overall, pathogenic mutations occurred in 6/160 individuals with MAE, accounting for ~4% of unsolved MAE cases. ..
- Scheffer I, Wallace R, Phillips F, Hewson P, Reardon K, Parasivam G, et al. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology. 2002;59:348-56 pubmed..Mutations of ARX are associated with a wide range of phenotypes; functional studies in the future may lend insights to the neurobiology of myoclonic seizures and infantile spasms. ..
- Thomas R, Zhang L, Carvill G, Archer J, Heavin S, Mandelstam S, et al. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. Neurology. 2015;84:951-8 pubmed publisher..Recognition of this genetic entity will permit earlier diagnosis and enable the development of targeted therapies. ..
- Zhang Y, Burgess R, Malone J, Glubb G, Helbig K, Vadlamudi L, et al. Genetic epilepsy with febrile seizures plus: Refining the spectrum. Neurology. 2017;89:1210-1219 pubmed publisher..The clinical and molecular data suggest that the 2 major groups of generalized epilepsies share genetic determinants. ..
- Mullen S, Carney P, Roten A, Ching M, Lightfoot P, Churilov L, et al. Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine. Neurology. 2018;90:e67-e72 pubmed publisher..This study provides Class II evidence that for persons with severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1, quinidine does not significantly reduce seizure frequency. ..