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The genetic landscape of the epileptic encephalopathies of infancy and childhood

Lancet neurology, 2016-03, Vol.15 (3), p.304-316

2016

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Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children

Cochrane database of systematic reviews, 2018-01, Vol.1 (1), p.CD001905-CD001905

2018

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Cerebral Organoids and Antisense Oligonucleotide Therapeutics: Challenges and Opportunities

Frontiers in molecular neuroscience, 2022-06, Vol.15, p.941528-941528

2022

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The expanding spectrum of movement disorders in genetic epilepsies

Developmental medicine and child neurology, 2020-02, Vol.62 (2), p.178-191

2020

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Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

Brain (London, England : 1878), 2013-05, Vol.136 (Pt 5), p.1578-1591

2013

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Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies

Frontiers in genome editing, 2021-03, Vol.3, p.630600-630600

2021

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Navigating the genetic landscape of childhood epilepsy: a new perspective?

Developmental medicine and child neurology, 2019-08, Vol.61 (8), p.858-859

Mctague, Amy

2019

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P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines

Genetics in Medicine Open, 2024, Vol.2, p.101145, Article 101145

2024

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Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

Npj genomic medicine, 2024-04, Vol.9 (1), p.27-27, Article 27

2024

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P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study

Genetics in Medicine Open, 2024, Vol.2, p.101201, Article 101201

2024

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Epilepsy and developmental disorders: Next generation sequencing in the clinic

European journal of paediatric neurology, 2020-01, Vol.24, p.15-23

2020

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Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1106-n/a

2020

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Migrating partial seizures of infancy: delineation of the clinical and genetic features in a national patient cohort

The Lancet (British edition), 2014-02, Vol.383, p.S14-S14

2014

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TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Tremor and other hyperkinetic movements (New York, N.Y.), 2017-01, Vol.7, p.452-452

2017

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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Journal of medical genetics, 2016-05, Vol.53 (5), p.310-317

2016

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The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Annals of neurology, 2019-12, Vol.86 (6), p.821-831

2019

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Treatment of Epileptic Encephalopathies

CNS drugs, 2013-03, Vol.27 (3), p.175-184

2013

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Factor associated with the occurrence of epilepsy in autism: a systematic review

Journal of autism and developmental disorders, 2023-10, Vol.53 (10), p.3873-3890

2023

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Corrigendum to “Epilepsy and developmental disorders: Next generation sequencing in the clinic” [Eur. J. Paediatr. Neurol. (2019) 15–23]

European journal of paediatric neurology, 2021-01, Vol.30, p.170-170

2021

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Genetic variant interpretation for the neurologist – A pragmatic approach in the next-generation sequencing era in childhood epilepsy

Epilepsy research, 2024-03, Vol.201, p.107341-107341, Article 107341

2024

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GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

Developmental medicine and child neurology, 2016-04, Vol.58 (4), p.416-420

2016

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Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?

Brain (London, England : 1878), 2024-08, Vol.147 (8), p.2791-2802

2024

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Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes

Epilepsia (Copenhagen), 2023-09, Vol.64 (9), p.2260-2273

2023

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Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Nature communications, 2015-09, Vol.6 (1), p.8038-8038, Article 8038

2015

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The genetic landscape of the epileptic encephalopathies of infancy and childhood

Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children

Cerebral Organoids and Antisense Oligonucleotide Therapeutics: Challenges and Opportunities

The expanding spectrum of movement disorders in genetic epilepsies

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies

Navigating the genetic landscape of childhood epilepsy: a new perspective?

P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study

Epilepsy and developmental disorders: Next generation sequencing in the clinic

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

Migrating partial seizures of infancy: delineation of the clinical and genetic features in a national patient cohort

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Treatment of Epileptic Encephalopathies

Factor associated with the occurrence of epilepsy in autism: a systematic review

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Corrigendum to “Epilepsy and developmental disorders: Next generation sequencing in the clinic” [Eur. J. Paediatr. Neurol. (2019) 15–23]

Genetic variant interpretation for the neurologist – A pragmatic approach in the next-generation sequencing era in childhood epilepsy

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?

Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

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