Lista de obras - Sarah E Heron - Dominio Público Uruguay

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

artículo científico publicado en 2007

A polygenic heterogeneity model for common epilepsies with complex genetics.

artículo científico publicado en 2007

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

artículo científico publicado en 2014

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

artículo científico publicado en 1997

Association studies and functional validation or functional validation alone?

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2001

Channelopathies in idiopathic epilepsy

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

Genetic variation of CACNA1H in idiopathic generalized epilepsy

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Mutations in KCNT1 cause a spectrum of focal epilepsies.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies

artículo científico publicado en 2013

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

artículo científico publicado en 2009

Novel Mutation in KCNQ2 Causing Benign Familial Neonatal Seizures

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Reply

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy ⬇️

artículo científico publicado el 23 de enero de 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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

Sodium-channel defects in benign familial neonatal-infantile seizures

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Lista de obras de 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 ofPRRT2in 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!