L. Dibbens

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Is Photosensitive Epilepsy Less Common in Males Due to Variation in X Chromosome Photopigment Genes?

I. Scheffer, S. Berkovic, J. Mulley, 2007, Epilepsia.

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

Steven Petrou, I. Scheffer, S. Berkovic, 2004, Human molecular genetics.

Genetic epilepsy with febrile seizures plus

I. Scheffer, S. Berkovic, A. Bleasel, 2017, Neurology.

Epileptic spasms are a feature of DEPDC5 mTORopathy

G. Carvill, I. Scheffer, H. Mefford, 2015, Neurology: Genetics.

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

J. Shendure, G. Carvill, I. Scheffer, 2014, Neurology.

Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families

I. Scheffer, S. Berkovic, A. Korczyn, 2004, Epilepsia.

Multiplex families with epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

Genetics of epilepsy

Kate M. Lawrence, I. Scheffer, J. Hopper, 2014, Neurology.

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

I. Scheffer, F. Jansen, Yuehua Zhang, 2009, Brain and Development.

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

I. Scheffer, G. Jackson, S. Berkovic, 2006, Brain : a journal of neurology.

Neonatal Epilepsy Syndromes and Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

I. Scheffer, S. Berkovic, J. Mulley, 2005, Epilepsia.

Autosomal dominant vasovagal syncope

Kate M. Lawrence, Katherine R. Smith, I. Scheffer, 2013, Neurology.

The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies

J. C. Mulley, S. Petrou, I. Scheffer, 2009, Neuroscience Letters.

δ Subunit Susceptibility Variants E177A and R220H Associated with Complex Epilepsy Alter Channel Gating and Surface Expression of α4β2δ GABAA Receptors

R. Macdonald, J. Mulley, Jing-Qiong Kang, 2006, The Journal of Neuroscience.

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

I. Scheffer, F. McKenzie, J. Mulley, 2011, Neurology.

Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

Kate M. Lawrence, I. Scheffer, S. Berkovic, 2010, The New England journal of medicine.

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations

I. Scheffer, J. Gécz, A. Connelly, 2014, Annals of neurology.

Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations

P. Kahane, G. Plazzi, M. Bramerio, 2018, Annals of clinical and translational neurology.

University of Southern Denmark Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations Rubboli,

P. Kahane, G. Plazzi, M. Bramerio, 2019 .

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Katherine R. Smith, I. Scheffer, G. Plazzi, 2012, Nature Genetics.

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure

F. Andermann, A. Bassuk, R. Michelucci, 2009, Annals of neurology.

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

I. Scheffer, S. Berkovic, D. Lev, 2009, Epilepsia.

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

B. Steinhoff, N. Tommerup, H. Lerche, 2016, Annals of neurology.

PRRT2 mutation in Japanese children with benign infantile epilepsy

T. Okanishi, H. Enoki, A. Okumura, 2013, Brain and Development.

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

I. Scheffer, S. Berkovic, M. Kinali, 2012, Neurology.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

J. Gécz, B. Bloem, S. Berkovic, 2013, Brain : a journal of neurology.

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes

I. Scheffer, S. Berkovic, J. Mulley, 2011, Epilepsia.

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam

I. Scheffer, S. Berkovic, J. Mulley, 2012, Epilepsy Research.

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors.

R. Macdonald, J. Mulley, Luyan Song, 2006, The Journal of neuroscience : the official journal of the Society for Neuroscience.

Do mutations in SCN1B cause Dravet syndrome?

I. Scheffer, S. Berkovic, R. Guerrini, 2013, Epilepsy Research.

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline

I. Scheffer, J. Cross, S. Berkovic, 2014, Developmental medicine and child neurology.

Augmented currents of an HCN2 variant in patients with febrile seizure syndromes

I. Scheffer, C. Reid, S. Berkovic, 2010, Annals of neurology.

Genetics of the epilepsies: Genetic twists in the channels and other tales

I. Scheffer, J. Gécz, Yuehua Zhang, 2010, Epilepsia.

Epilepsy and mental retardation limited to females: an under-recognized disorder.

K. Friend, I. Scheffer, M. Shaw, 2008, Brain : a journal of neurology.

receptors is a susceptibility locus for Generalised Epilepsies

I. Scheffer, S. Berkovic, S. Petrou, 2004 .

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

Steven Petrou, David A Williams, I. Scheffer, 2002, American journal of human genetics.

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations

R. Michelucci, S. Berkovic, C. Tassinari, 2011, Epilepsia.

BRAT1‐associated neurodegeneration: Intra‐familial phenotypic differences in siblings

L. Dibbens, N. Smith, J. Lipsett, 2016, American journal of medical genetics. Part A.

Mutations in KCNT1 cause a spectrum of focal epilepsies

G. Carvill, I. Scheffer, H. Mefford, 2015, Epilepsia.

NEDD4‐2 as a potential candidate susceptibility gene for epileptic photosensitivity

I. Scheffer, D. Adams, S. Berkovic, 2007, Genes, brain, and behavior.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Andrew Menzies, Sarah Edkins, Sara Widaa, 2008, Nature Genetics.

Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects

S. Berkovic, D. Power, S. Fraser, 2013, BioResearch open access.

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

R. D'Hooge, G. Smyth, F. Andermann, 2008, American journal of human genetics.

A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2

F. Micheli, S. Berkovic, L. Dibbens, 2012, Movement disorders : official journal of the Movement Disorder Society.

Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.

S. Berkovic, A. Cole, I. Karakis, 2011, Archives of neurology.

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling

James N. Hughes, D. McAninch, L. Dibbens, 2017, Scientific Reports.

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study

I. Scheffer, S. Berkovic, J. Mulley, 2010, The Lancet Neurology.

Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way

J. Mulley, L. Dibbens, 2009, Genome Medicine.

The spectrum of SCN1A-related infantile epileptic encephalopathies.

I. Scheffer, F. Andermann, S. Berkovic, 2007, Brain : a journal of neurology.

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

I. Scheffer, J. Schouten, S. Berkovic, 2006, Neurology.

SCN1A mutations and epilepsy

Steven Petrou, I. Scheffer, S. Berkovic, 2005, Human mutation.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

James N. Hughes, I. Scheffer, E. Haan, 2012, American journal of human genetics.

Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies

J. Mulley, L. Dibbens, S. Heron, 2011, Epilepsia.

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

I. Scheffer, S. Berkovic, D. Lev, 2001, American journal of human genetics.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

C. Gieger, I. Scheffer, T. Wienker, 2012, Human molecular genetics.

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

L. Dibbens, S. Heron, 2013, Journal of Medical Genetics.

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

I. Scheffer, H. Mefford, E. Eichler, 2009, Human molecular genetics.

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

I. Scheffer, S. Berkovic, J. Mulley, 2011, Neurology research international.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

M. Daly, I. Scheffer, A. Palotie, 2014, Nature Genetics.

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine

I. Scheffer, D. Goldstein, C. Reid, 2014, Annals of neurology.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

François Dubeau, Frederick Andermann, Samuel F. Berkovic, 2013, Nature Genetics.

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

J. Gécz, G. Jackson, S. Berkovic, 2010, American journal of human genetics.

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

I. Scheffer, A. Palotie, P. Striano, 2021, American journal of human genetics.

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

I. Scheffer, S. Berkovic, G. Rubboli, 2015, Annals of neurology.

De novo SCN1A mutations in migrating partial seizures of infancy

I. Scheffer, H. Mefford, E. Wirrell, 2011, Neurology.

Genetic variations and associated pathophysiology in the management of epilepsy

J. Mulley, L. Dibbens, 2011, The application of clinical genetics.

Channelopathies in idiopathic epilepsy

I. Scheffer, S. Berkovic, J. Mulley, 2007, Neurotherapeutics.

A polygenic heterogeneity model for common epilepsies with complex genetics

J. Mulley, L. Dibbens, S. Heron, 2007, Genes, brain, and behavior.

Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

R M Gardiner, I. Scheffer, S. Berkovic, 2003, Neurology.

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects

L. Dibbens, S. Heron, M. Ricos, 2016, Journal of Medical Genetics.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Melanie Bahlo, Bastiaan R Bloem, Luke C Gandolfo, 2011, American journal of human genetics.

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations

I. Scheffer, S. Berkovic, A. Harvey, 2012, Epilepsy Research.

SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

I. Scheffer, P. Striano, S. Berkovic, 2009, Epilepsia.

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

Kate M. Lawrence, I. Scheffer, H. Mefford, 2015, Epilepsy Research.

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

G. Carvill, I. Scheffer, H. Mefford, 2013, Neurology.

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

I. Scheffer, E. Wirrell, M. Mackay, 2013, Epilepsia.

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

Bert Sakmann, Samuel F. Berkovic, Steven Petrou, 2007, Proceedings of the National Academy of Sciences.

Gene expression analysis in absence epilepsy using a monozygotic twin design

Kate M. Lawrence, Dileepa S. Diyagama, I. Scheffer, 2008, Epilepsia.

Neurobiology of Disease Subunit Susceptibility Variants E 177 A and R 220 H Associated with Complex Epilepsy Alter Channel Gating and Surface Expression of 4 2 GABAA Receptors

R. Macdonald, J. Mulley, Luyan Song, 2006 .

Susceptibility genes for complex epilepsy.

I. Scheffer, S. Berkovic, J. Mulley, 2005, Human molecular genetics.

F. Bartolomei, P. Striano, A. Coppola, 2021, Brain : a journal of neurology.

Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies

I. Scheffer, S. Berkovic, L. Dibbens, 2013, Epilepsia.

Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

I. Scheffer, S. Berkovic, S. Petrovski, 2016, Annals of neurology.

Investigating genetic variants in microRNA regulators of Neurokinin‐1 receptor in sudden infant death syndrome

R. Vink, R. Byard, L. Dibbens, 2022, Acta paediatrica.

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation

I. Scheffer, K. Kaila, S. Berkovic, 2014, EMBO reports.

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

P. Lockhart, I. Scheffer, G. Jackson, 2015, Annals of clinical and translational neurology.

Announcements

J. Gécz, J. Mulley, R. Wallace, 2011 .

“Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy!

J. Gécz, J. Mulley, R. Wallace, 2011, Epilepsia.

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study

I. Scheffer, L. Hinton, S. Berkovic, 2010, Epileptic disorders : international epilepsy journal with videotape.

Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

S. Petrou, T. Furukawa, T. Okanishi, 2015, PloS one.

SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

G. Rubboli, P. Saftig, M. Schwake, 2016, Epileptic disorders : international epilepsy journal with videotape.

Impaired Regulation of Intracellular Chloride Cortical Neurons Lacking KCC2 Expression Show

D. Lovinger, K. Kaila, S. Berkovic, 2015 .

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Michael R Stratton, N. Brown, I. Scheffer, 2009, Journal of Medical Genetics.

Genome-wide Association Analysis of Genetic Generalized Epilepsies Implicates Susceptibility Loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Epicure Consortium

C. Gieger, I. Scheffer, T. Wienker, 2022 .

SCN1A variations and response to multiple antiepileptic drugs

L. Dibbens, N. Tan, V. Suppiah, 2013, The Pharmacogenomics Journal.

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling

James N. Hughes, L. Dibbens, N. Harvey, 2017, Scientific Reports.

GOSR2: a progressive myoclonus epilepsy gene.

G. Rubboli, L. Dibbens, 2016, Epileptic disorders : international epilepsy journal with videotape.

Chromosomal Instability Causes Sensitivity to Polyamines and One-Carbon Metabolism

S. Gregory, L. Dibbens, Z. Shaukat, 2023, Metabolites.

Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity

G. Rubboli, L. Dibbens, G. Rychkov, 2022, International journal of molecular sciences.

Genetic variations and associated pathophysiology in the management of epilepsy.

J. Mulley, L. Dibbens, 2011 .

Genetic variations and associated pathophysiology in the management of epilepsy

J. Mulley, L. Dibbens, 2011 .

The Application of Clinical Genetics Dovepress Genetic Variations and Associated Pathophysiology in the Management of Epilepsy

J. Mulley, L. Dibbens, 2022 .

Genetic epilepsy with febrile seizures plus

I. Scheffer, S. Berkovic, A. Bleasel, 2022 .

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

I. Scheffer, J. Gécz, F. Dubeau, 2013, Nature Genetics.

Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies

I. Scheffer, S. Berkovic, L. Dibbens, 2013, Epilepsia.

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

I. Scheffer, S. Berkovic, G. Rubboli, 2015, Annals of neurology.

Augmented currents of an HCN2 variant in patients with febrile seizure syndromes

I. Scheffer, C. Reid, S. Berkovic, 2010, Annals of neurology.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

James N. Hughes, I. Scheffer, E. Haan, 2012, American journal of human genetics.

Genetic epilepsy with febrile seizures plus

I. Scheffer, S. Berkovic, A. Bleasel, 2017, Neurology.

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

I. Scheffer, F. Jansen, Yuehua Zhang, 2009, Brain and Development.

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

I. Scheffer, S. Berkovic, J. Mulley, 2011, Neurology research international.