List of works - Mark I Rees

A Two-Stage Genome Scan for Schizophrenia Susceptibility Genes in 196 Affected Sibling Pairs

article

A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy

scientific article published on 2 June 2014

A critical role for glycine transporters in hyperexcitability disorders

scientific article

A genomewide linkage study of age at onset in schizophrenia

article

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

scientific article

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

scientific article

An ovine transgenic Huntington's disease model

scientific article

An unusual case of hyperekplexia

scientific article published on 01 January 2000

Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.

scientific article published in January 2003

Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT).

scientific article published in September 1997

Autosome search for schizophrenia susceptibility genes in multiply affected families

article

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

scientific article published on 22 May 2009

Bipolar disorder and the serotonin transporter gene: a family-based association study

article

Brugada syndrome masquerading as febrile seizures.

scientific article published on 9 April 2007

Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia.

scientific article published in January 2002

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

scientific article published in July 2001

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

Coinheritance of long QT syndrome and Kearns-Sayre syndrome

scientific article published on 15 August 2007

Complement is activated in progressive multiple sclerosis cortical grey matter lesions

scientific article published on 22 June 2016

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia ⬇️

scientific article published on September 1, 2001

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

scientific article published on April 2014

Differential localization of GABAA receptor subunits within the substantia nigra of the human brain: an immunohistochemical study.

scientific article

Differential localization of gamma-aminobutyric acid type A and glycine receptor subunits and gephyrin in the human pons, medulla oblongata and uppermost cervical segment of the spinal cord: an immunohistochemical study.

scientific article published in February 2010

Distribution of gephyrin in the human brain: an immunohistochemical analysis

scientific article (publication date: 2003)

Dynamic changes in myelin aberrations and oligodendrocyte generation in chronic amyloidosis in mice and men.

scientific article published on 22 October 2012

Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?

scientific article published on 30 November 2010

Epilepsy and deprivation, a data linkage study

scientific article

Epilepsy genetics: clinical beginnings and social consequences

scientific article

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

scientific article

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

scientific article (publication date: December 1994)

Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy

scientific article

Flow-induced ATP release in patient-specific arterial geometries--a comparative study of computational models

scientific article published on 25 July 2013

Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function

scientific article

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

scientific article (publication date: February 2000)

GABA(A) receptor subunit and gephyrin protein changes differ in the globus pallidus in Huntington's diseased brain

scientific article published in December 2003

GLRB is the third major gene of effect in hyperekplexia.

scientific article published on 25 November 2012

Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes

scientific article published on 06 December 2011

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

scientific article

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

scientific article

Ghrelin inhibits LPS-induced release of IL-6 from mouse dopaminergic neurones.

scientific article published on 19 March 2013

Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: an immunohistochemical study

scientific article

Harris syndrome - a geographic perspective.

scientific article

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

scientific article

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients

scientific article

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

scientific article

Identifying and prioritising epilepsy treatment uncertainties

scientific article published on 18 June 2010

Immunohistochemical staining of post-mortem adult human brain sections.

scientific article published in January 2006

Implications for families of advances in understanding the genetic basis of epilepsy

scientific article

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

scientific article (publication date: 4 July 2003)

Localization of glycine receptors in the human forebrain, brainstem, and cervical spinal cord: an immunohistochemical review

scientific article

Misdiagnosis of long QT syndrome as epilepsy at first presentation

scientific article published on 12 March 2009

Molecular investigation of TBP allele length: a SCA17 cellular model and population study

scientific article published on June 2003

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

scientific article

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

scientific article

Near-miss SIDS due to Brugada syndrome

scientific article published in May 2005

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

scientific article

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

scientific article published on 09 October 2013

Next Generation Sequencing Methodologies - An Overview

scientific article published on January 1, 2012

No evidence for allelic association between bipolar disorder and monoamine oxidase A gene polymorphisms

scientific article published on August 1995

Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype

scientific article

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

scientific article published on 10 December 2012

Optimized sample preparation for high-resolution AFM characterization of fixed human cells.

scientific article published on November 2010

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

scientific article

PICK1 interacts with alpha7 neuronal nicotinic acetylcholine receptors and controls their clustering.

scientific article published on 24 March 2007

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

scientific article

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

scientific article published on July 2010

Posthumous diagnosis of long QT syndrome from neonatal screening cards

article

QT interval prolongation associated with sibutramine treatment

scientific article published in April 2006

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

scientific article published on 30 June 2015

Red cell dimorphism in a young man with a constitutional chromosomal translocation t(11;22)(p15.5;q11.21)

scientific article published on 01 June 1994

Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone

scientific article

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

scientific article

Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias

scientific article published on 26 May 2011

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

scientific article

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

scientific article

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

scientific article

The conundrum of complexity in epilepsy

scientific article published on 01 November 2007

The genetics of epilepsy—The past, the present and future ⬇️

scientific article published on November 20, 2010

The genetics of hyperekplexia: more than startle!

scientific article published on 15 August 2008

The glycinergic system in human startle disease: a genetic screening approach

scientific article

Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.

scientific article published on 23 October 2012

Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010.

scientific article published on 19 September 2013

Weight change associated with antiepileptic drugs

scientific article

List of works by Mark I Rees

A Two-Stage Genome Scan for Schizophrenia Susceptibility Genes in 196 Affected Sibling Pairs

A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy

A critical role for glycine transporters in hyperexcitability disorders

A genomewide linkage study of age at onset in schizophrenia

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

An ovine transgenic Huntington's disease model

An unusual case of hyperekplexia

Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.

Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT).

Autosome search for schizophrenia susceptibility genes in multiply affected families

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

Bipolar disorder and the serotonin transporter gene: a family-based association study

Brugada syndrome masquerading as febrile seizures.

Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia.

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

Clinical spectrum of STX1B-related epileptic disorders.

Coinheritance of long QT syndrome and Kearns-Sayre syndrome

Complement is activated in progressive multiple sclerosis cortical grey matter lesions

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia ⬇️

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

Differential localization of GABAA receptor subunits within the substantia nigra of the human brain: an immunohistochemical study.

Differential localization of gamma-aminobutyric acid type A and glycine receptor subunits and gephyrin in the human pons, medulla oblongata and uppermost cervical segment of the spinal cord: an immunohistochemical study.

Distribution of gephyrin in the human brain: an immunohistochemical analysis

Dynamic changes in myelin aberrations and oligodendrocyte generation in chronic amyloidosis in mice and men.

Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?

Epilepsy and deprivation, a data linkage study

Epilepsy genetics: clinical beginnings and social consequences

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy

Flow-induced ATP release in patient-specific arterial geometries--a comparative study of computational models

Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

GABA(A) receptor subunit and gephyrin protein changes differ in the globus pallidus in Huntington's diseased brain

GLRB is the third major gene of effect in hyperekplexia.

Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

Ghrelin inhibits LPS-induced release of IL-6 from mouse dopaminergic neurones.

Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: an immunohistochemical study

Harris syndrome - a geographic perspective.

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

Identifying and prioritising epilepsy treatment uncertainties

Immunohistochemical staining of post-mortem adult human brain sections.

Implications for families of advances in understanding the genetic basis of epilepsy

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

Localization of glycine receptors in the human forebrain, brainstem, and cervical spinal cord: an immunohistochemical review

Misdiagnosis of long QT syndrome as epilepsy at first presentation

Molecular investigation of TBP allele length: a SCA17 cellular model and population study

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Near-miss SIDS due to Brugada syndrome

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

Next Generation Sequencing Methodologies - An Overview

No evidence for allelic association between bipolar disorder and monoamine oxidase A gene polymorphisms

Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

Optimized sample preparation for high-resolution AFM characterization of fixed human cells.

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

PICK1 interacts with alpha7 neuronal nicotinic acetylcholine receptors and controls their clustering.

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

Posthumous diagnosis of long QT syndrome from neonatal screening cards

QT interval prolongation associated with sibutramine treatment

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Red cell dimorphism in a young man with a constitutional chromosomal translocation t(11;22)(p15.5;q11.21)

Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

The conundrum of complexity in epilepsy

The genetics of epilepsy—The past, the present and future ⬇️

The genetics of hyperekplexia: more than startle!