List of works - Robyn Wallace

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

scientific article

A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping

scientific article published on 05 January 2005

A plethora of SCN1A mutations: what can they tell us?

scientific article published on January 2005

A potassium channel is associated with resistance to epilepsy

scientific article published on November 2004

A promising genetic approach for the treatment of epilepsy

scientific article published on July 2004

ALS-associated TDP-43 induces endoplasmic reticulum stress, which drives cytoplasmic TDP-43 accumulation and stress granule formation

scientific article

Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.

scientific article

Cannabinoids: defending the epileptic brain.

scientific article published on May 2004

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

scientific article published on 20 September 2017

Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

article

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

scientific article published on 01 December 1998

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

scientific article published in August 1998

Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.

scientific article

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

scientific article published in May 2004

Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain.

scientific article

Identification of a new JME gene implicates reduced apoptotic neuronal death as a mechanism of epileptogenesis.

scientific article published on January 2005

LGI1 mutations in temporal lobe epilepsies

scientific article

Latent stem and progenitor cells in the hippocampus are activated by neural excitation.

scientific article published in May 2008

Locus for febrile seizures

scientific article published on 01 June 2000

Magnetic resonance microimaging of the spinal cord in the SOD1 mouse model of amyotrophic lateral sclerosis detects motor nerve root degeneration.

scientific article published on 13 June 2011

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

scientific article

Non-invasive diffusion tensor imaging detects white matter degeneration in the spinal cord of a mouse model of amyotrophic lateral sclerosis.

scientific article

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

scientific article published in September 2003

Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures.

scientific article published on 5 December 2007

Susceptibility Gene for Juvenile Myoclonic Epilepsy Rings True.

scientific article

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

scientific article published on 4 October 2006

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

scientific article

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.

scientific article published on 17 November 2017

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

scientific article (publication date: 13 August 2002)

“Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy!

scientific article published on 01 September 2011

List of works by Robyn Wallace

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping

A plethora of SCN1A mutations: what can they tell us?

A potassium channel is associated with resistance to epilepsy

A promising genetic approach for the treatment of epilepsy

ALS-associated TDP-43 induces endoplasmic reticulum stress, which drives cytoplasmic TDP-43 accumulation and stress granule formation

Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.

Cannabinoids: defending the epileptic brain.

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain.

Identification of a new JME gene implicates reduced apoptotic neuronal death as a mechanism of epileptogenesis.

LGI1 mutations in temporal lobe epilepsies

Latent stem and progenitor cells in the hippocampus are activated by neural excitation.

Locus for febrile seizures

Magnetic resonance microimaging of the spinal cord in the SOD1 mouse model of amyotrophic lateral sclerosis detects motor nerve root degeneration.

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

Non-invasive diffusion tensor imaging detects white matter degeneration in the spinal cord of a mouse model of amyotrophic lateral sclerosis.

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures.

Susceptibility Gene for Juvenile Myoclonic Epilepsy Rings True.

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

“Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy!