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Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

The Lancet (British edition), 2001-09, Vol.358 (9284), p.801-807

2001

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Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

Brain (London, England : 1878), 2005-12, Vol.128 (12), p.2786-2796

2005

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Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia

Brain (London, England : 1878), 2004-12, Vol.127 (12), p.2682-2692

2004

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Variable K+ channel subunit dysfunction in inherited mutations of KCNA1

The Journal of physiology, 2002-01, Vol.538 (1), p.5-23

2002

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Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

Neurobiology of disease, 2008-10, Vol.32 (1), p.10-15

2008

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New calcium channel mutations predict aberrant RNA splicing in episodic ataxia

Neurology, 2005-07, Vol.65 (2), p.308-310

2005

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Functional Downregulation of P2X3 Receptor Subunit in Rat Sensory Neurons Reveals a Significant Role in Chronic Neuropathic and Inflammatory Pain

The Journal of neuroscience, 2002-09, Vol.22 (18), p.8139-8147

2002

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Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

The Journal of physiology, 2010-06, Vol.588 (11), p.1905-1913

2010

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Striatal and cortical pre‐ and postsynaptic dopaminergic dysfunction in sporadic parkin‐linked parkinsonism

Brain (London, England : 1878), 2004-06, Vol.127 (6), p.1332-1342

2004

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Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy: Variation of CACNA1A in episodic ataxia and epilepsy

The Journal of physiology, 2010-06, Vol.588 (11), p.1905-1913

2010

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The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

Annals of neurology, 1999-12, Vol.46 (6), p.916-919

1999

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Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years

Movement disorders, 2005-04, Vol.20 (4), p.479-484

2005

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Premature stop codons in a facilitating EF-hand splice variant of Ca sub(V)2.1 cause episodic ataxia type 2

Neurobiology of disease, 2008-01, Vol.32 (1), p.10-15

2008

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Premature stop codons in a facilitating EF-hand splice variant of CaV 2.1 cause episodic ataxia type 2

Neurobiology of disease, 2008, Vol.32 (1), p.10-15

2008

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Premature stop codons in a facilitating EF-hand splice variant of Ca V2.1 cause episodic ataxia type 2

Neurobiology of disease, 2008, Vol.32 (1), p.10-15

2008

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Functional Characterization of a Novel Mutation in KCNA1 in Episodic Ataxia Type 1 Associated with Epilepsy

Annals of the New York Academy of Sciences, 1999-04, Vol.868 (1), p.442-446

1999

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Dysfunction of the brain calcium channel Ca sub(V)2.1 in absence epilepsy and episodic ataxia

Brain (London, England : 1878), 2004-12, Vol.127 (12), p.2682-2692

2004

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Functional Downregulation of P2X 3 Receptor Subunit in Rat Sensory Neurons Reveals a Significant Role in Chronic Neuropathic and Inflammatory Pain

The Journal of neuroscience, 2002-09, Vol.22 (18), p.8139-8147

2002

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Clinical, genetic and expression studies of human CNS channelopathies

Eunson, Louise Helen

2001

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Study protocol: a mixed-methods realist evaluation of the Universal Health Visiting Pathway in Scotland

BMJ open, 2020-12, Vol.10 (12), p.e042305-e042305

2020

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Preterm labour: summary of NICE guidance

BMJ (Online), 2015-11, Vol.351, p.h6283

2015

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Proptosis as the presenting sign of giant prolactinoma in a prepubertal boy: successful resolution of hydrocephalus by use of medical therapy

Future oncology (London, England), 2012-12, Vol.8 (12), p.1621-1626

2012

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Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia

Variable K+ channel subunit dysfunction in inherited mutations of KCNA1

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

New calcium channel mutations predict aberrant RNA splicing in episodic ataxia

Functional Downregulation of P2X3 Receptor Subunit in Rat Sensory Neurons Reveals a Significant Role in Chronic Neuropathic and Inflammatory Pain

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

Striatal and cortical pre‐ and postsynaptic dopaminergic dysfunction in sporadic parkin‐linked parkinsonism

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy: Variation of CACNA1A in episodic ataxia and epilepsy

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years

Premature stop codons in a facilitating EF-hand splice variant of Ca sub(V)2.1 cause episodic ataxia type 2

Premature stop codons in a facilitating EF-hand splice variant of CaV 2.1 cause episodic ataxia type 2

Premature stop codons in a facilitating EF-hand splice variant of Ca V2.1 cause episodic ataxia type 2

Functional Characterization of a Novel Mutation in KCNA1 in Episodic Ataxia Type 1 Associated with Epilepsy

Dysfunction of the brain calcium channel Ca sub(V)2.1 in absence epilepsy and episodic ataxia

Functional Downregulation of P2X 3 Receptor Subunit in Rat Sensory Neurons Reveals a Significant Role in Chronic Neuropathic and Inflammatory Pain

Clinical, genetic and expression studies of human CNS channelopathies

Study protocol: a mixed-methods realist evaluation of the Universal Health Visiting Pathway in Scotland

Preterm labour: summary of NICE guidance

Proptosis as the presenting sign of giant prolactinoma in a prepubertal boy: successful resolution of hydrocephalus by use of medical therapy

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