Lista de obras - Jacinta M McMahon - Dominio Público Uruguay

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

artículo científico publicado en 2006

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

artículo científico publicado en 2007

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study

artículo científico publicado en 2010

Do mutations in SCN1B cause Dravet syndrome?

artículo científico publicado en 2012

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

artículo científico publicado en 2011

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study

article

Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance

scientific article published on 23 September 2010

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations

artículo científico publicado en 2012

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2004

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

artículo científico publicado en 2015

Increased nicotinamide nucleotide transhydrogenase levels predispose to insulin hypersecretion in a mouse strain susceptible to diabetes.

artículo científico publicado en 2007

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

scientific journal article

Mortality in Dravet syndrome

artículo científico publicado en 2016

Mutations in KCNT1 cause a spectrum of focal epilepsies.

artículo científico publicado en 2015

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

artículo científico publicado en 2015

Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies

artículo científico publicado en 2013

Progressive gait deterioration in adolescents with Dravet syndrome.

artículo científico publicado en 2012

Rare copy number variants are an important cause of epileptic encephalopathies

artículo científico publicado en 2011

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

artículo científico publicado en 2013

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

artículo científico publicado en 2009

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

artículo científico publicado en 2013

The phenotypic spectrum of SCN8A encephalopathy

artículo científico publicado en 2015

The spectrum of SCN1A-related infantile epileptic encephalopathies

artículo científico publicado en 2007

Timing of de novo mutagenesis--a twin study of sodium-channel mutations

artículo científico publicado en 2010

Lista de obras de Jacinta M McMahon

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

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline

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

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

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

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study

Do mutations in SCN1B cause Dravet syndrome?

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study

Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

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

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Increased nicotinamide nucleotide transhydrogenase levels predispose to insulin hypersecretion in a mouse strain susceptible to diabetes.

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

Mortality in Dravet syndrome

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies

Progressive gait deterioration in adolescents with Dravet syndrome.

Rare copy number variants are an important cause of epileptic encephalopathies

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

The phenotypic spectrum of SCN8A encephalopathy

The spectrum of SCN1A-related infantile epileptic encephalopathies

Timing of de novo mutagenesis--a twin study of sodium-channel mutations