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Epilepsy, antiepileptic drugs, and the risk of major cardiovascular events

Epilepsia (Copenhagen), 2021-07, Vol.62 (7), p.1604-1616

2021

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Sex-specific disease modifiers in juvenile myoclonic epilepsy

Scientific reports, 2022-02, Vol.12 (1), p.2785-2785, Article 2785

2022

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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

American journal of human genetics, 2014-04, Vol.94 (4), p.634-641

2014

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Meningeal inflammation and cortical demyelination in acute multiple sclerosis

Annals of neurology, 2018-12, Vol.84 (6), p.829-842

2018

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

Glia, 2013-02, Vol.61 (2), p.273-286

2013

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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

American journal of human genetics, 2021-01, Vol.108 (1), p.176-185

2021

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A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure

American journal of human genetics, 2022-11, Vol.109 (11), p.2080-2087

2022

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The genetics of hyperekplexia: more than startle

Trends in genetics, 2008-09, Vol.24 (9), p.439-447

2008

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Tubulin genes and malformations of cortical development

European journal of medical genetics, 2018-12, Vol.61 (12), p.744-754

2018

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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Brain (London, England : 1878), 2013-02, Vol.136 (Pt 2), p.536-548

2013

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Epilepsy mortality in Wales during COVID-19

Seizure (London, England), 2022-01, Vol.94, p.39-42

2022

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

Brain (London, England : 1878), 2018-03, Vol.141 (3), p.651-661

2018

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Complement is activated in progressive multiple sclerosis cortical grey matter lesions

Journal of neuroinflammation, 2016-06, Vol.13 (1), p.161-161, Article 161

2016

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Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients

Brain & development (Tokyo. 1979), 2017-04, Vol.39 (4), p.306-311

2017

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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

Human molecular genetics, 2015-09, Vol.24 (18), p.5313-5325

2015

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Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

Brain (London, England : 1878), 2018-07, Vol.141 (7), p.e55-e55

2018

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Genetic influences on epilepsy outcomes: A whole‐exome sequencing and health care records data linkage study

Epilepsia (Copenhagen), 2023-11, Vol.64 (11), p.3099-3108

2023

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

Human molecular genetics, 2010-07, Vol.19 (14), p.2817-2827

2010

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

Seizure (London, England), 2010-12, Vol.19 (10), p.680-683

Rees, Mark I

2010

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Using natural language processing to extract structured epilepsy data from unstructured clinic letters: development and validation of the ExECT (extraction of epilepsy clinical text) system

BMJ open, 2019-04, Vol.9 (4), p.e023232-e023232

2019

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Weight change associated with antiepileptic drugs

Journal of neurology, neurosurgery and psychiatry, 2013-07, Vol.84 (7), p.796-799

2013

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

Brain (London, England : 1878), 2013-10, Vol.136 (10), p.3085-3095

2013

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Validating epilepsy diagnoses in routinely collected data

Seizure (London, England), 2017-11, Vol.52, p.195-198

2017

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An ovine transgenic Huntington's disease model

Human molecular genetics, 2010-05, Vol.19 (10), p.1873-1882

2010

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Maximum likelihood estimation of the negative binomial dispersion parameter for highly overdispersed data, with applications to infectious diseases

PloS one, 2007-02, Vol.2 (2), p.e180-e180

2007

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Epilepsy, antiepileptic drugs, and the risk of major cardiovascular events

Sex-specific disease modifiers in juvenile myoclonic epilepsy

De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

Meningeal inflammation and cortical demyelination in acute multiple sclerosis

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

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure

The genetics of hyperekplexia: more than startle

Tubulin genes and malformations of cortical development

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Epilepsy mortality in Wales during COVID-19

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

Complement is activated in progressive multiple sclerosis cortical grey matter lesions

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

Genetic influences on epilepsy outcomes: A whole‐exome sequencing and health care records data linkage study

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

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

Using natural language processing to extract structured epilepsy data from unstructured clinic letters: development and validation of the ExECT (extraction of epilepsy clinical text) system

Weight change associated with antiepileptic drugs

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

Validating epilepsy diagnoses in routinely collected data

An ovine transgenic Huntington's disease model

Maximum likelihood estimation of the negative binomial dispersion parameter for highly overdispersed data, with applications to infectious diseases

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