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Louise A. Harkin

University of Adelaide
Boston Children's Hospital

28

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4001

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The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies

2009 Neuroscience Letters
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Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function

2007 Neuroscience
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Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations

2007 Brain
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The spectrum of SCN1A-related infantile epileptic encephalopathies.

2007 Brain
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Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults

2006 Neurology
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De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study

2006 Lancet Neurology
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Severe infantile multi-focal epilepsy: A new sodium channel phenotype

2006 Epilepsia
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Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations

2006 Brain
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A new molecular mechanism for severe myoclonic epilepsy of infancy : Exonic deletions in SCN1A

2006 Neurology
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Susceptibility genes for complex epilepsy

2005 Human Molecular Genetics
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Citations (95)