Nature Search

Silent hippocampal seizures and spikes identified by foramen ovale electrodes in Alzheimer's disease

Using intracranial electrode recordings in two individuals with Alzheimer's disease, Lam et al. discover hippocampal seizure activity that could not be detected by traditional EEG monitoring.

Alice D Lam
Gina Deck
Andrew J Cole
Research01 May 2017
Nature Medicine

Volume: 23, P: 678-680
To share or not to share: A randomized trial of consent for data sharing in genome research

Amy L McGuire
Jill M Oliver
Susan G Hilsenbeck
Research22 Jul 2011
Genetics in Medicine

Volume: 13, P: 948-955
DNA data sharing: research participants' perspectives

Amy L McGuire
Jennifer A Hamilton
Alica Goldman
Research01 Jan 2008
Genetics in Medicine

Volume: 10, P: 46-53
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

Siwei Chen
Bassel W. Abou-Khalil
Samuel F. Berkovic
Research03 Oct 2024
Nature Neuroscience

Volume: 27, P: 1864-1879
Using high-frequency oscillations from brief intraoperative neural recordings to predict the seizure onset zone

Fazli Besheli et al. identify intraoperative high frequency oscillations (HFOs) using noise-resilient computational intelligence to effectively localize seizure-generating brain regions. Epileptogenic zones are identified from brief intraoperative neural recordings.

Behrang Fazli Besheli
Zhiyi Sha
Nuri F. Ince
ResearchOpen Access25 Nov 2024
Communications Medicine

Volume: 4, P: 1-13
Epigenetic genes and epilepsy — emerging mechanisms and clinical applications

This Review considers how variants in genes encoding proteins that regulate epigenetic mechanisms might contribute to epilepsy. The discussion is structured around five categories of epigenetic mechanisms: DNA methylation, histone modifications, histone–DNA crosstalk, non-coding RNAs and chromatin remodelling.

Karen M. J. Van Loo
Gemma L. Carvill
David C. Henshall
Reviews20 Jul 2022
Nature Reviews Neurology

Volume: 18, P: 530-543
Benchmarking signal quality and spatiotemporal distribution of interictal spikes in prolonged human iEEG recordings using CorTec wireless brain interchange

Amir Hossein Ayyoubi
Behrang Fazli Besheli
Nuri F. Ince
ResearchOpen Access08 Feb 2024
Scientific Reports

Volume: 14, P: 1-14
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

A diagnostic tool based on blood RNA-seq is shown to identify causal genes and variants linked to clinical phenotypes in individuals with rare diseases for which whole-exome genetic sequencing was uninformative.

Laure Frésard
Craig Smail
Stephen B. Montgomery
Research03 Jun 2019
Nature Medicine

Volume: 25, P: 911-919
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

Jennifer E. Kyle
Kelly G. Stratton
Thomas O. Metz
ResearchOpen Access21 Apr 2021
Scientific Data

Volume: 8, P: 1-12
One is the loneliest number: genotypic matchmaking using the electronic health record

Elly Brokamp
Mary E. Koziura
Jimann Shin
Comments & Opinion06 Jul 2021
Genetics in Medicine

Volume: 23, P: 1830-1832
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Amendments and Corrections14 Sept 2021
Genetics in Medicine

Volume: 23, P: 2016
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
Amendments and CorrectionsOpen Access19 Oct 2021
Genetics in Medicine

Volume: 23, P: 2467

Search

Silent hippocampal seizures and spikes identified by foramen ovale electrodes in Alzheimer's disease

To share or not to share: A randomized trial of consent for data sharing in genome research

DNA data sharing: research participants' perspectives

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Using high-frequency oscillations from brief intraoperative neural recordings to predict the seizure onset zone

Epigenetic genes and epilepsy — emerging mechanisms and clinical applications

Benchmarking signal quality and spatiotemporal distribution of interictal spikes in prolonged human iEEG recordings using CorTec wireless brain interchange

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

One is the loneliest number: genotypic matchmaking using the electronic health record

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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