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Correction: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M Jenkinson
Mathieu P Rodero
Yanick J Crow
Amendments and Corrections31 Jan 2017
Nature Genetics

Volume: 49, P: 317
The challenges and innovations for therapy in children with epilepsy

Wilmshurst et al. discuss how appropriate terminology can aid in the diagnosis and treatment of paediatric epilepsies. Furthermore, they give an update on key changes to the organization and terminology of epilepsies by the International League Against Epilepsy and an overview of the challenges in implementing new guidelines to treat paediatric patients particularly in low-income countries.

Jo M. Wilmshurst
Anne T. Berg
J. Helen Cross
Reviews08 Apr 2014
Nature Reviews Neurology

Volume: 10, P: 249-260
ADHD Deficit as Measured in Adolescent Boys with a Continuous Performance Task Is Related to Antenatal Maternal Anxiety

Bea R H van den Bergh
Maarten Mennes
Lieven Lagae
Research01 Jan 2006
Pediatric Research

Volume: 59, P: 78-82
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years

A comprehensive multi-omic analysis of the EPISTOP trial for Tuberous Sclerosis Complex (TSC). was performed. Here, authors show many differences in serum proteins and metabolites, and blood RNA species, including associations with seizure development.

Franz Huschner
Jagoda Głowacka-Walas
David J. Kwiatkowski
ResearchOpen Access23 Nov 2023
Nature Communications

Volume: 14, P: 1-15
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Yanick Crow and colleagues report that biallelic mutations in SNORD118, which encodes the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. The mutations affect U8 expression, processing and protein binding and suggest a role for this snoRNA in cerebral vascular homeostasis.

Emma M Jenkinson
Mathieu P Rodero
Yanick J Crow
Research29 Aug 2016
Nature Genetics

Volume: 48, P: 1185-1192
SeizeIT2: Wearable Dataset Of Patients With Focal Epilepsy

Miguel Bhagubai
Christos Chatzichristos
Maarten De Vos
ResearchOpen Access15 Jul 2025
Scientific Data

Volume: 12, P: 1-10
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Aicardi-Goutieres syndrome is a genetically determined encephalopathy that is associated with an increased production of interferon alpha, which in turn is central to the pathogenesis of systemic lupus erythematosus. Yanick Crow and colleagues now identify homozygous mutations in an interferon-inducible nuclear gene encoding SAMHD1 in AGS-affected individuals across several pedigrees and characterize its function in modulating an innate immune response.

Gillian I Rice
Jacquelyn Bond
Yanick J Crow
Research14 Jun 2009
Nature Genetics

Volume: 41, P: 829-832
Erratum: Antenatal Maternal Anxiety is Related to HPA-Axis Dysregulation and Self-Reported Depressive Symptoms in Adolescence: A Prospective Study on the Fetal Origins of Depressed Mood

Bea R H Van den Bergh
Ben Van Calster
Lieven Lagae
Amendments and Corrections15 Jul 2008
Neuropsychopharmacology

Volume: 33, P: 2301
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Yanick Crow, Sun Hur and colleagues show that gain-of-function mutations in IFIH1 cause a spectrum of neural and immunological phenotypes associated with enhanced interferon signaling. The mutations increase the affinity of IFIH1 for RNA, leading to immune upregulation and inflammatory disease.

Gillian I Rice
Yoandris del Toro Duany
Yanick J Crow
Research30 Mar 2014
Nature Genetics

Volume: 46, P: 503-509
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

Barbara Ogórek
Lana Hamieh
David J. Kwiatkowski
Research28 May 2020
Genetics in Medicine

Volume: 22, P: 1489-1497
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

James D. Mills
Anand M. Iyer
Eleonora Aronica
ResearchOpen Access14 Aug 2017
Scientific Reports

Volume: 7, P: 1-16
Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

James D. Mills
Anand M. Iyer
Eleonora Aronica
Amendments and CorrectionsOpen Access14 Sept 2022
Scientific Reports

Volume: 12, P: 1
Antenatal Maternal Anxiety is Related to HPA-Axis Dysregulation and Self-Reported Depressive Symptoms in Adolescence: A Prospective Study on the Fetal Origins of Depressed Mood

Bea R H Van den Bergh
Ben Van Calster
Lieven Lagae
Research16 May 2007
Neuropsychopharmacology

Volume: 33, P: 536-545

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Correction: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

The challenges and innovations for therapy in children with epilepsy

ADHD Deficit as Measured in Adolescent Boys with a Continuous Performance Task Is Related to Antenatal Maternal Anxiety

Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

SeizeIT2: Wearable Dataset Of Patients With Focal Epilepsy

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Erratum: Antenatal Maternal Anxiety is Related to HPA-Axis Dysregulation and Self-Reported Depressive Symptoms in Adolescence: A Prospective Study on the Fetal Origins of Depressed Mood

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

Antenatal Maternal Anxiety is Related to HPA-Axis Dysregulation and Self-Reported Depressive Symptoms in Adolescence: A Prospective Study on the Fetal Origins of Depressed Mood

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