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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Annals of neurology, 2012-01, Vol.71 (1), p.15-25

2012

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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.152-160

2012

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Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study

Lancet neurology, 2010-06, Vol.9 (6), p.592-598

2010

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Navigating the channels and beyond: unravelling the genetics of the epilepsies

Lancet neurology, 2008-03, Vol.7 (3), p.231-245

2008

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Accessibility and Residential Land Value Uplift: Identifying Spatial Variations in the Accessibility Impacts of a Bus Transitway

Urban studies (Edinburgh, Scotland), 2014-06, Vol.51 (8), p.1707-1724

Mulley, Corinne

2014

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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Human molecular genetics, 2009-10, Vol.18 (19), p.3626-3631

2009

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A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

American journal of human genetics, 2010-09, Vol.87 (3), p.371-375

2010

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De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study

Lancet neurology, 2006-06, Vol.5 (6), p.488-492

2006

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Human epilepsies : interaction of genetic and acquired factors

Trends in neurosciences (Regular ed.), 2006-07, Vol.29 (7), p.391-397

2006

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Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

Proceedings of the National Academy of Sciences - PNAS, 2007-10, Vol.104 (44), p.17536-17541

2007

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Effect of concentrate feeding on instrumental meat quality and sensory characteristics of fallow deer venison

Meat science, 2012-03, Vol.90 (3), p.801-806

2012

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Genetic Association Studies in Epilepsy: “The Truth Is Out There”

Epilepsia (Copenhagen), 2004-11, Vol.45 (11), p.1429-1442

2004

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SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

Epilepsia (Copenhagen), 2009-07, Vol.50 (7), p.1670-1678

2009

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Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy

Annals of neurology, 2004-04, Vol.55 (4), p.550-557

2004

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SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum

Epilepsia (Copenhagen), 2007-06, Vol.48 (6), p.1138-1142

2007

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Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy

Neurology, 2004-09, Vol.63 (6), p.1090

2004

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Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations

Brain (London, England : 1878), 2007-01, Vol.130 (1), p.100-109

2007

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Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults

Neurology, 2006-12, Vol.67 (12), p.2224

2006

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Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

Journal of medical genetics, 2011-01, Vol.48 (1), p.1-9

2011

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SCN1A mutations and epilepsy

Human mutation, 2005-06, Vol.25 (6), p.535-542

2005

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Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

Journal of medical genetics, 2007-12, Vol.44 (12), p.791-796

2007

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Nature genetics, 2002-04, Vol.30 (4), p.441-445

2002

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Consumer evaluation of venison sensory quality: Effects of sex, body condition score and carcase suspension method

Meat science, 2010-10, Vol.86 (2), p.311-316

2010

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Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?

Epilepsia (Copenhagen), 2010-02, Vol.51 (2), p.293-296

2010

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Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

Neurology, 2011-04, Vol.76 (17), p.1514

2011

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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study

Navigating the channels and beyond: unravelling the genetics of the epilepsies

Accessibility and Residential Land Value Uplift: Identifying Spatial Variations in the Accessibility Impacts of a Bus Transitway

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study

Human epilepsies : interaction of genetic and acquired factors

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

Effect of concentrate feeding on instrumental meat quality and sensory characteristics of fallow deer venison

Genetic Association Studies in Epilepsy: “The Truth Is Out There”

SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy

SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum

Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations

Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

SCN1A mutations and epilepsy

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Consumer evaluation of venison sensory quality: Effects of sex, body condition score and carcase suspension method

Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

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