I E Scheffer


Affiliation: University of Melbourne
Country: Australia


  1. request reprint
    Scheffer I, Harkin L, Grinton B, Dibbens L, Turner S, Zielinski M, et al. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain. 2007;130:100-9 pubmed
    ..We confirm the role of SCN1B in GEFS+ and show that the GEFS+ spectrum may include TLE alone. TLE with an SCN1B mutation is not a contraindication to epilepsy surgery. ..
  2. request reprint
    Scheffer I, Harkin L, Dibbens L, Mulley J, Berkovic S. Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia. 2005;46 Suppl 10:41-7 pubmed
  3. Scheffer I, Zhang Y, Jansen F, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?. Brain Dev. 2009;31:394-400 pubmed publisher
    ..Early recognition of Dravet syndrome is important as aggressive control of seizures may improve developmental outcome. ..
  4. Turner S, Mayes A, Verhoeven A, Mandelstam S, Morgan A, Scheffer I. GRIN2A: an aptly named gene for speech dysfunction. Neurology. 2015;84:586-93 pubmed publisher
    ..By understanding the mechanisms involved in GRIN2A disorders, targeted therapy may be designed to improve chronic lifelong deficits in intelligibility. ..
  5. McTague A, Howell K, Cross J, Kurian M, Scheffer I. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016;15:304-16 pubmed publisher
    ..These findings underpin the development of targeted therapies, which are essential to improve the outcome of these devastating disorders. ..
  6. Vears D, Dunn K, Wake S, Scheffer I. "It's good to know": experiences of gene identification and result disclosure in familial epilepsies. Epilepsy Res. 2015;112:64-71 pubmed publisher
    ..This information can be used to inform the development of guidelines for genetic result disclosure and genetic counselling for individuals and families with epilepsies. ..
  7. Howell K, McMahon J, Carvill G, Tambunan D, Mackay M, Rodriguez Casero V, et al. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015;85:958-66 pubmed publisher
    ..Here, we show that SCN2A is the second most common cause of EIMFS and, importantly, does not always have a poor developmental outcome. Sodium channel blockers, particularly phenytoin, may improve seizure control. ..
  8. Cooper M, McIntosh A, Crompton D, McMahon J, Schneider A, Farrell K, et al. Mortality in Dravet syndrome. Epilepsy Res. 2016;128:43-47 pubmed publisher
    ..SUDEP in DS occurs mainly in childhood. It is also the highest SUDEP rate, considerably higher than the recent 5.1 SUDEP rate/1000-person-years for adults with refractory epilepsy. ..
  9. Turner S, Brown A, Arpone M, Anderson V, Morgan A, Scheffer I. Dysarthria and broader motor speech deficits in Dravet syndrome. Neurology. 2017;88:743-749 pubmed publisher
    ..We describe a distinctive speech, language, and oral motor phenotype in children and adults with DS associated with mutations in SCN1A. Recognizing this phenotype will guide therapeutic intervention in patients with DS. ..

More Information


  1. 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. ..
  2. 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. ..
  3. 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. ..
  4. 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. ..
  5. request reprint
    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. ..
  6. 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. ..
  7. 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. ..
  8. 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. ..