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Authors: Ingrid E Scheffer
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Journal Article

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40

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Angela T Morgan and others
Brain, Volume 146, Issue 12, December 2023, Pages 5086–5097, https://doi.org/10.1093/brain/awad314
Published: 18 November 2023
Journal Article

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

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Helena Martins Custodio and others
Brain, Volume 146, Issue 9, September 2023, Pages 3885–3897, https://doi.org/10.1093/brain/awad111
Published: 03 April 2023
Journal Article

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

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Luca Gozzelino and others
Brain, Volume 145, Issue 7, July 2022, Pages 2313–2331, https://doi.org/10.1093/brain/awac082
Published: 04 July 2022
Journal Article

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

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Andreas Brunklaus and others
Brain, Volume 145, Issue 11, November 2022, Pages 3816–3831, https://doi.org/10.1093/brain/awac210
Published: 13 June 2022
Journal Article

UNC13B and focal epilepsy

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Timothy E. Green and others
Brain, Volume 145, Issue 3, March 2022, Pages e10–e12, https://doi.org/10.1093/brain/awab485
Published: 05 April 2022
Journal Article

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

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Line Skotte and others
Brain, Volume 145, Issue 2, February 2022, Pages 555–568, https://doi.org/10.1093/brain/awab260
Published: 12 January 2022
Journal Article

Atypical development of Broca’s area in a large family with inherited stuttering

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Daisy G Y Thompson-Lake and others
Brain, Volume 145, Issue 3, March 2022, Pages 1177–1188, https://doi.org/10.1093/brain/awab364
Published: 23 November 2021
Journal Article

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

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Annalisa Vetro and others
Brain, Volume 144, Issue 5, May 2021, Pages 1435–1450, https://doi.org/10.1093/brain/awab052
Published: 10 May 2021
Journal Article

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy

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Lauren E Bleakley and others
Brain, Volume 144, Issue 7, July 2021, Pages 2060–2073, https://doi.org/10.1093/brain/awab145
Published: 01 April 2021
Journal Article

Molecular epidemiology of monogenic epilepsies answers key clinical questions

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Ingrid E Scheffer
Brain, Volume 142, Issue 8, August 2019, Pages 2173–2175, https://doi.org/10.1093/brain/awz208
Published: 25 July 2019
Journal Article

Dorsal language stream anomalies in an inherited speech disorder

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Frédérique J Liégeois and others
Brain, Volume 142, Issue 4, April 2019, Pages 966–977, https://doi.org/10.1093/brain/awz018
Published: 23 February 2019
Journal Article
EDITOR'S CHOICE

The ventrolateral medulla and medullary raphe in sudden unexpected death in epilepsy

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Smriti Patodia and others
Brain, Volume 141, Issue 6, June 2018, Pages 1719–1733, https://doi.org/10.1093/brain/awy078
Published: 28 March 2018
Journal Article
EDITOR'S CHOICE

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

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Fatima Jaffer and others
Brain, Volume 138, Issue 10, October 2015, Pages 2859–2874, https://doi.org/10.1093/brain/awv243
Published: 21 August 2015
Journal Article

CHD2 variants are a risk factor for photosensitivity in epilepsy

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Elizabeth C. Galizia and others
Brain, Volume 138, Issue 5, May 2015, Pages 1198–1208, https://doi.org/10.1093/brain/awv052
Published: 16 March 2015
Journal Article

Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome Get access

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Christopher A. Reid and others
Brain, Volume 137, Issue 6, June 2014, Pages 1701–1715, https://doi.org/10.1093/brain/awu077
Published: 17 April 2014
Journal Article

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene Get access

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Valerio Conti and others
Brain, Volume 136, Issue 11, November 2013, Pages 3378–3394, https://doi.org/10.1093/brain/awt249
Published: 20 September 2013
Journal Article

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

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Dalia Kasperavičiūtė and others
Brain, Volume 136, Issue 10, October 2013, Pages 3140–3150, https://doi.org/10.1093/brain/awt233
Published: 06 September 2013
Journal Article

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum Get access

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Amy McTague and others
Brain, Volume 136, Issue 5, May 2013, Pages 1578–1591, https://doi.org/10.1093/brain/awt073
Published: 18 April 2013
Journal Article

In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission Get access

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Susan E. Tomlinson and others
Brain, Volume 135, Issue 10, October 2012, Pages 3144–3152, https://doi.org/10.1093/brain/aws241
Published: 11 October 2012
Journal Article

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

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Claudia B. Catarino and others
Brain, Volume 134, Issue 10, October 2011, Pages 2982–3010, https://doi.org/10.1093/brain/awr129
Published: 29 June 2011