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Authors: Helle Hjalgrim
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Journal Article

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

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Markus Wolff and others
Brain, Volume 140, Issue 5, May 2017, Pages 1316–1336, https://doi.org/10.1093/brain/awx054
Published: 04 April 2017
Journal Article

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

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Katia Hardies and others
Brain, Volume 139, Issue 9, September 2016, Pages 2420–2430, https://doi.org/10.1093/brain/aww180
Published: 19 July 2016
Journal Article

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

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Katia Hardies and others
Brain, Volume 138, Issue 11, November 2015, Pages 3238–3250, https://doi.org/10.1093/brain/awv263
Published: 18 September 2015
Journal Article

‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation Get access

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Lysa Boissé Lomax and others
Brain, Volume 136, Issue 4, April 2013, Pages 1146–1154, https://doi.org/10.1093/brain/awt021
Published: 28 February 2013
Journal Article

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies Get access

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Carolien G. F. de Kovel and others
Brain, Volume 133, Issue 1, January 2010, Pages 23–32, https://doi.org/10.1093/brain/awp262
Published: 20 October 2009