List of works - Sarah E Heron

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

scientific article published on 13 March 2007

A polygenic heterogeneity model for common epilepsies with complex genetics.

scientific article published on 7 June 2007

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

scientific article

Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome

scientific article

Association studies and functional validation or functional validation alone?

scientific article published on 11 April 2007

Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.

scientific article published in April 2013

BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings

scientific article published on 02 August 2016

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

scientific article

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

scientific article published on 17 December 2015

Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.

scientific article published on 23 March 2012

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

scientific article

Channelopathies in idiopathic epilepsy

scientific article published on April 2007

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

scientific article published on 08 July 2009

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

scientific article

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum

scientific article

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

scientific article published on 15 May 2015

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

article

Febrile convulsions and genetic susceptibility: role of the neuronal nicotinic acetylcholine receptor alpha 4 subunit

scientific article published in May 2004

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations

scientific article published on February 2004

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 variation of CACNA1H in idiopathic generalized epilepsy

scientific article

Genetics of epilepsy: The testimony of twins in the molecular era

scientific article

Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?

scientific article published in May 2005

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

scientific article

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

scientific article

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

article

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

scientific article published on 22 January 2016

Mutations in KCNT1 cause a spectrum of focal epilepsies.

scientific article

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

scientific article published on 14 April 2014

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

scientific article published on 27 October 2015

Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies

scientific article published on 08 April 2013

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

scientific article published on 27 October 2009

Novel Mutation in KCNQ2 Causing Benign Familial Neonatal Seizures

scientific article published on 01 November 2009

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

scientific article

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

scientific article published on January 2012

Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies

scientific article published on 01 March 2011

Reply

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

scientific article published on 23 January 2013

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

article

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability

scientific article

Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures

scientific article

Sodium-channel defects in benign familial neonatal-infantile seizures

scientific article (publication date: 14 September 2002)

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

scientific article

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

scientific article published on 01 September 2011

List of works by Sarah E Heron

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

A polygenic heterogeneity model for common epilepsies with complex genetics.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome

Association studies and functional validation or functional validation alone?

Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.

BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings

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

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

Channelopathies in idiopathic epilepsy

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

Febrile convulsions and genetic susceptibility: role of the neuronal nicotinic acetylcholine receptor alpha 4 subunit

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations

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

Genetic variation of CACNA1H in idiopathic generalized epilepsy

Genetics of epilepsy: The testimony of twins in the molecular era

Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

Novel Mutation in KCNQ2 Causing Benign Familial Neonatal Seizures

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies

Reply

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

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

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability

Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures

Sodium-channel defects in benign familial neonatal-infantile seizures

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

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