Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor

Genetics of essential tremor

(2016) Murni Tio et al.   PARKINSONISM & RELATED DISORDERS

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

(2016) Hiroko Okuda et al.   PLoS One

Missense mutations inTENM4, a regulator of axon guidance and central myelination, cause essential tremor

(2015) Hyun Hor et al.   HUMAN MOLECULAR GENETICS

NaV1.9: a sodium channel linked to human pain

(2015) Sulayman D. Dib-Hajj et al.   NATURE REVIEWS NEUROSCIENCE

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

(2015) Enrico Leipold et al.   Nature Communications

Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy

(2014) Jianying Huang et al.   BRAIN

Genetics of essential tremor: Meta-analysis and review

(2014) G. Kuhlenbaumer et al.   NEUROLOGY

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

(2014) Hilal Unal Gulsuner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Update on genetics of essential tremor

(2013) F. J. Jiménez-Jiménez et al.   ACTA NEUROLOGICA SCANDINAVICA

Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain

(2013) Xiang Yang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

(2013) Enrico Leipold et al.   NATURE GENETICS

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

(2012) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal dominant essential tremor: a novel family with anticipation

(2012) Elena Pasini et al.   NEUROLOGICAL SCIENCES

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

(2012) S. Thier et al.   NEUROLOGY

Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answers

(2012) Alexander Zimprich   PARKINSONISM & RELATED DISORDERS

Genetics of Parkinsonʼs disease and essential tremor

(2011) Alexander Zimprich   CURRENT OPINION IN NEUROLOGY

Genetics of essential tremor

(2011) Barbara Jasinska-Myga et al.   PARKINSONISM & RELATED DISORDERS

Sodium Channels in Normal and Pathological Pain

(2010) Sulayman D. Dib-Hajj et al.   Annual Review of Neuroscience

Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry

(2010) Elan D Louis   LANCET NEUROLOGY

A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome

(2010) Barbara Kremeyer et al.   NEURON

Inflammatory Mediators Increase Nav1.9 Current and Excitability in Nociceptors through a Coincident Detection Mechanism

(2008) François Maingret et al.   JOURNAL OF GENERAL PHYSIOLOGY