Ingrid E Scheffer

Samuel F Berkovic 9 collaborations

Michael S Hildebrand 9 collaborations

Lynette G Sadleir 8 collaborations

Heather C Mefford 8 collaborations

Melanie Bahlo 7 collaborations

Candace T Myers 6 collaborations

David J Amor 5 collaborations

Amy L Schneider 5 collaborations

Katherine B Howell 4 collaborations

Angela T Morgan 4 collaborations

Jozef Gecz 4 collaborations

Deepak Gill 4 collaborations

Sanjay M Sisodiya 4 collaborations

Paul J Lockhart 3 collaborations

Richard J Leventer 3 collaborations

Cyril Mignot 3 collaborations

Thomas S Scerri 3 collaborations

Matthew Coleman 3 collaborations

Joseph D Symonds 3 collaborations

Jill A Rosenfeld 3 collaborations

Karen L Oliver 3 collaborations

Martin Delatycki 3 collaborations

Richard Webster 3 collaborations

None None 3 collaborations

Gemma L Carvill 3 collaborations

Gaetan Lesca 3 collaborations

Kenneth A Myers 2 collaborations

Greta Gillies 2 collaborations

Duncan MacGregor 2 collaborations

Chontelle King 2 collaborations

Guillem de Valles-Ibáñez 2 collaborations

Boris Keren 2 collaborations

Suzanne Davis 2 collaborations

Michael Zech 2 collaborations

Victoria E Jackson 2 collaborations

Kristin A Rigbye 2 collaborations

Matias Wagner 2 collaborations

Carlos A Bacino 2 collaborations

David Coman 2 collaborations

Brigid M Regan 2 collaborations

Maria J Guillen Sacoto 2 collaborations

Pasquale Striano 2 collaborations

Sha Tang 2 collaborations

Danique R M Vlaskamp 2 collaborations

Heather Mefford 2 collaborations

Michele G Mehaffey 2 collaborations

Annapurna Poduri 2 collaborations

Alan Ma 2 collaborations

Simon E Fisher 2 collaborations

Amber Boys 2 collaborations

Michael Hayman 2 collaborations

Himanshu Goel 2 collaborations

Anne Baxter 2 collaborations

Piero Perucca 2 collaborations

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Eva Brilstra 2 collaborations

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Bradley P Coe 2 collaborations

Evan E Eichler 2 collaborations

Mark F Bennett 2 collaborations

Bertrand Isidor 2 collaborations

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Georgie Hollingsworth 2 collaborations

Martino Montomoli 2 collaborations

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Kate Pope 1 collaboration

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Anthony Simon Harvey 1 collaboration

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Brian Chung 1 collaboration

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Peter Kannu 1 collaboration

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Kamal Khan 1 collaboration

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Daniel D Lam 1 collaboration

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Anna Fečíková 1 collaboration

Tim M Strom 1 collaboration

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Marie R Mooney 1 collaboration

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Robert Jech 1 collaboration

Erica E Davis 1 collaboration

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Juliane Winkelmann 1 collaboration

Bobby G Ng 1 collaboration

Paulina Sosicka 1 collaboration

Satish Agadi 1 collaboration

Mohammed Almannai 1 collaboration

Rita Barone 1 collaboration

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Jennifer E Burton 1 collaboration

Colleen Carlston 1 collaboration

Brian Hon-Yin Chung 1 collaboration

Julie S Cohen 1 collaboration

Katrina M Dipple 1 collaboration

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William B Dobyns 1 collaboration

Abdallah F Elias 1 collaboration

Leon Epstein 1 collaboration

William A Gahl 1 collaboration

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Jaclyn Haven 1 collaboration

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Matthew Herzog 1 collaboration

George E Hoganson 1 collaboration

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Mahim Jain 1 collaboration

Jane Juusola 1 collaboration

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Hane Lee 1 collaboration

Joy Lee 1 collaboration

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Arthur Partikian 1 collaboration

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Lin Han 1 collaboration

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Elizabeth E Palmer 1 collaboration

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Gaetano Terrone 1 collaboration

Claude Besmond 1 collaboration

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Pierre Meyer 1 collaboration

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Affiliations

Publications (35)

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.

Fragile Females: Case Series of Epilepsy in Girls With

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.

The epileptology of GNB5 encephalopathy.

When Monogenic Isn't Monogenic-Unravelling the Oligogenic Architecture of the Developmental and Epileptic Encephalopathies.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.

Medullary tyrosine hydroxylase catecholaminergic neuronal populations in sudden unexpected death in epilepsy.

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.

Add-on cannabidiol in patients with Dravet syndrome: Results of a long-term open-label extension trial.

A family study implicates GBE1 in the etiology of autism spectrum disorder.

Identification of a recurrent mosaic

Epidemiology of Treated Epilepsy in New Zealand Children: A Focus on Ethnicity.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Transcriptome analysis of a ring chromosome 20 patient cohort.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Genetic Contributions to Acquired Epilepsies.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Postictal Psychosis in Epilepsy: A Clinicogenetic Study.

Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.

Genetic architecture of childhood speech disorder: a review.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.

Complications of Influenza A or B Virus Infection in Individuals With

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Epilepsies.

Réseau de co-auteurs