List of works - Lynette Sadleir

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

scientific article published on 28 December 2015

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

scientific article published on 04 May 2020

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

scientific article published on 11 June 2018

Acute flaccid paralysis from echovirus type 33 infection.

scientific article

An international pilot study of an Internet-based platform to facilitate clinical research in epilepsy: the EpiNet project

scientific article published on 07 September 2012

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

scientific article published on 08 September 2020

Autism and developmental disability caused by KCNQ3 gain-of-function variants

scientific article published on 26 June 2019

Automatisms in absence seizures in children with idiopathic generalized epilepsy

scientific article published in June 2009

Bringing epilepsy out of the shadows in New Zealand.

scientific article published on 25 January 2008

CHD2 variants are a risk factor for photosensitivity in epilepsy

scientific article published on 17 March 2015

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

scientific article published on 05 January 2012

Clinical genetic study of the epilepsy-aphasia spectrum

scientific article

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

scientific article published on 15 September 2017

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

scientific article published on 26 July 2018

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

scientific article published on 21 September 2020

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

scientific article published in March 2021

Do neurologists around the world agree when diagnosing epilepsy? - Results of an international EpiNet study

scientific article published on 26 October 2017

Double somatic mosaicism in a child with Dravet syndrome

scientific article published on 19 April 2019

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

article

Efficacy of cannabinoids in paediatric epilepsy

Electroclinical features of absence seizures in sleep

scientific article published on 20 January 2011

EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process.

scientific article

Epidemiology of Treated Epilepsy in New Zealand Children

scientific article published on 9 November 2021

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

scientific article published on 24 December 2015

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

scientific article published on 04 October 2019

Factors influencing clinical features of absence seizures.

scientific article published on 26 June 2008

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus

scientific article

Family studies of individuals with eyelid myoclonia with absences

scientific article published on December 2012

Febrile seizures.

scientific article

Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption

scientific article published on 22 August 2019

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

scientific article published on 12 March 2014

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

scientific article published on 11 August 2013

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

scientific article published on 22 August 2019

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

scientific article

Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk

scientific article published on 06 June 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

scientific article published on 22 December 2023

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

scientific article published on 12 March 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Juvenile Alpers disease

scientific article published on 01 January 2008

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

scientific article published in April 2024

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy

scientific article published on 03 January 2020

Mortality in Dravet syndrome

scientific article published on 26 October 2016

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

scientific article

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

scientific article published on 20 July 2016

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

scientific article published on 05 May 2015

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

scientific article published on 05 November 2020

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

scientific article published on 9 August 2017

Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures

scientific article published on 12 July 2010

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum

scientific article published on 28 August 2020

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

scientific article published on January 2012

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

scientific article

Paediatric EEG provision in New Zealand: a survey of practice

scientific article published on 27 March 2015

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

scientific article

Rare copy number variants are an important cause of epileptic encephalopathies

scientific article published on December 2011

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

scientific article published on 29 July 2013

Safety and Tolerability of Transdermal Cannabidiol Gel in Children With Developmental and Epileptic Encephalopathies: A Nonrandomized Controlled Trial

scientific article published in September 2021

Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy

scientific article published on 03 March 2019

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

scientific article

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

scientific article

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

scientific article published on 01 December 2019

The epilepsy phenome/genome project.

scientific article published on July 2013

The epileptology of GNB5 encephalopathy

scientific article published on 20 October 2019

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

scientific article published on 07 January 2021

The spectrum of SCN1A-related infantile epileptic encephalopathies

scientific article published in March 2007

Using the Internet to recruit patients for epilepsy trials: results of a New Zealand pilot study

scientific article published on 3 November 2009

Vascular function and risk factors in children with epilepsy: associations with sodium valproate and carbamazepine.

scientific article published on 14 May 2014

List of works by Lynette Sadleir

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

Acute flaccid paralysis from echovirus type 33 infection.

An international pilot study of an Internet-based platform to facilitate clinical research in epilepsy: the EpiNet project

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Autism and developmental disability caused by KCNQ3 gain-of-function variants

Automatisms in absence seizures in children with idiopathic generalized epilepsy

Bringing epilepsy out of the shadows in New Zealand.

CHD2 variants are a risk factor for photosensitivity in epilepsy

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

Clinical genetic study of the epilepsy-aphasia spectrum

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

Do neurologists around the world agree when diagnosing epilepsy? - Results of an international EpiNet study

Double somatic mosaicism in a child with Dravet syndrome

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

Efficacy of cannabinoids in paediatric epilepsy

Electroclinical features of absence seizures in sleep

EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process.

Epidemiology of Treated Epilepsy in New Zealand Children

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

Factors influencing clinical features of absence seizures.

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus

Family studies of individuals with eyelid myoclonia with absences

Febrile seizures.

Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

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

Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Juvenile Alpers disease

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy

Mortality in Dravet syndrome

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum

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

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Paediatric EEG provision in New Zealand: a survey of practice

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

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

Safety and Tolerability of Transdermal Cannabidiol Gel in Children With Developmental and Epileptic Encephalopathies: A Nonrandomized Controlled Trial

Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

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

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

The epilepsy phenome/genome project.

The epileptology of GNB5 encephalopathy

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

The spectrum of SCN1A-related infantile epileptic encephalopathies

Using the Internet to recruit patients for epilepsy trials: results of a New Zealand pilot study

Vascular function and risk factors in children with epilepsy: associations with sodium valproate and carbamazepine.