Eva Andermann

Research interests

Publications

• Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

  The Lancet Neurology · 2017 · https://doi.org/10.1016/s1474-4422(16)30359-3

• Familial focal epilepsy with focal cortical dysplasia due to DEPDC 5 mutations

  Annals of Neurology · 2015 · https://doi.org/10.1002/ana.24368

• Somatic Mutations in Cerebral Cortical Malformations

  New England Journal of Medicine · 2014 · https://doi.org/10.1056/nejmoa1314432

• A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.3144

• Mutations in DEPDC5 cause familial focal epilepsy with variable foci

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2599

• Rare copy number variants are an important cause of epileptic encephalopathies

  Annals of Neurology · 2011 · https://doi.org/10.1002/ana.22645

• Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

  Brain · 2010 · https://doi.org/10.1093/brain/awq078

• Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

  The American Journal of Human Genetics · 2008 · https://doi.org/10.1016/j.ajhg.2007.12.019

• The spectrum of SCN1A-related infantile epileptic encephalopathies

  Brain · 2007 · https://doi.org/10.1093/brain/awm002

• Mutations in NHLRC1 cause progressive myoclonus epilepsy

  Nature Genetics · 2003 · https://doi.org/10.1038/ng1238

• Sodium-channel defects in benign familial neonatal-infantile seizures

  The Lancet · 2002 · https://doi.org/10.1016/s0140-6736(02)09968-3

• Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

  Nature Genetics · 1998 · https://doi.org/10.1038/2470

• Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

  Nature Genetics · 1997 · https://doi.org/10.1038/ng0397-298

• Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

  Annals of Neurology · 1997 · https://doi.org/10.1002/ana.410410518

• Usefulness of focal rhythmic discharges on scalp EEG of patients with focal cortical dysplasia and intractable epilepsy

  Electroencephalography and Clinical Neurophysiology · 1996 · https://doi.org/10.1016/0013-4694(95)00266-9

• Autosomal dominant nocturnal frontal lobe epilepsy

  Brain · 1995 · https://doi.org/10.1093/brain/118.1.61

• Periventricular and subcortical nodular heterotopia A study of 33 patients

  Brain · 1995 · https://doi.org/10.1093/brain/118.5.1273

• Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results

  Annals of Neurology · 1995 · https://doi.org/10.1002/ana.410370410

• Temporal Lobe Epilepsy After Prolonged Febrile Convulsions: Excellent Outcome After Surgical Treatment

  Epilepsia · 1993 · https://doi.org/10.1111/j.1528-1157.1993.tb02105.x

• Focal neuronal migration disorders and intractable partial epilepsy: A study of 30 patients

  Annals of Neurology · 1991 · https://doi.org/10.1002/ana.410300602

• KUFS' DISEASE: A CRITICAL REAPPRAISAL

  Brain · 1988 · https://doi.org/10.1093/brain/111.1.27

• Concepts of absence epilepsies

  Neurology · 1987 · https://doi.org/10.1212/wnl.37.6.993

• GENETIC PREDISPOSITION TO PHENYTOIN-INDUCED BIRTH DEFECTS

  The Lancet · 1985 · https://doi.org/10.1016/s0140-6736(85)90629-4

• Marriage and Fertility in Epileptic Patients

  Epilepsia · 1980 · https://doi.org/10.1111/j.1528-1157.1980.tb04072.x

• STARTLE DISEASE OR HYPEREKPLEXIA FURTHER DELINEATION OF THE SYNDROME

  Brain · 1980 · https://doi.org/10.1093/brain/103.4.985

Current projects

No projects listed.