From molecules to medicines: the dawn of targeted therapies for genetic epilepsies

Disparities in genetics assessment for women with ovarian cancer: Can we do better?

(2018) Erica Manrriquez et al.   GYNECOLOGIC ONCOLOGY

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Transcriptional landscape of a RET C634Y -mutated iPSC and its CRISPR-corrected isogenic control reveals the putative role of EGR1 transcriptional program in the development of multiple endocrine neoplasia type 2A-associated cancers

(2018) Julien Hadoux et al.   Stem Cell Research

Treatment Outcomes in Patients With Newly Diagnosed Epilepsy Treated With Established and New Antiepileptic Drugs

(2018) Zhibin Chen et al.   JAMA Neurology

National Distribution of Cancer Genetic Testing in the United States

(2018) Kimberly K. Childers et al.   JAMA Oncology

Genetic Testing for Inherited Cardiac Diseases in Underserved Populations of Non-European Ancestry

(2018) Glenn S. Gerhard et al.   JAMA Cardiology

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H

(2017) Sarah B. Mulkey et al.   EPILEPSIA

Thalamocortical functional connectivity in Lennox-Gastaut syndrome is abnormally enhanced in executive-control and default-mode networks

(2017) Aaron E. L. Warren et al.   EPILEPSIA

Personalized translational epilepsy research — Novel approaches and future perspectives

(2017) Felix Rosenow et al.   EPILEPSY & BEHAVIOR

Scavenging reactive oxygen species inhibits status epilepticus-induced neuroinflammation

(2017) Pallavi B. McElroy et al.   EXPERIMENTAL NEUROLOGY

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

(2017) Siqi Cao et al.   HUMAN MOLECULAR GENETICS

Metabolic Dysfunction and Oxidative Stress in Epilepsy

(2017) Jennifer Pearson-Smith et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A Model Program for Translational Medicine in Epilepsy Genetics

(2017) Lacey A. Smith et al.   JOURNAL OF CHILD NEUROLOGY

Automated analysis of brain activity for seizure detection in zebrafish models of epilepsy

(2017) Borbála Hunyadi et al.   JOURNAL OF NEUROSCIENCE METHODS

Induced pluripotent stem cells from patients with focal cortical dysplasia and refractory epilepsy

(2017) Daniel Rodrigo Marinowic et al.   Molecular Medicine Reports

mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis

(2017) Chloë Scheldeman et al.   NEUROBIOLOGY OF DISEASE

Oxidative Stress Contributes to Status Epilepticus Associated Mortality

(2017) Jennifer N. Pearson-Smith et al.   NEUROCHEMICAL RESEARCH

Precision therapy for epilepsy due toKCNT1mutations

(2017) Saul A. Mullen et al.   NEUROLOGY

Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy

(2017) Amy McTague et al.   NEUROLOGY

The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype

(2017) Katherine M. Evely et al.   NEUROSCIENCE

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology

(2017) Nikita Zabinyakov et al.   PLoS One

Neuronal hyperexcitability in a mouse model ofSCN8Aepileptic encephalopathy

(2017) Luis F. Lopez-Santiago et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN)

(2017) Daryeon Son et al.   Stem Cell Research

Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary) microcephaly disease

(2017) Rui Li et al.   Protein & Cell

A state-wide initiative to promote genetic testing in an underserved population

(2017) Meghan L. Underhill et al.   Cancer Medicine

Rapid Generation of Human Genetic Loss-of-Function iPSC Lines by Simultaneous Reprogramming and Gene Editing

(2017) Andrew M. Tidball et al.   Stem Cell Reports

Evaluating whole genome sequence data from the Genetic Absence Epilepsy Rat from Strasbourg and its related non-epileptic strain

(2017) Pablo M. Casillas-Espinosa et al.   PLoS One

Optical mapping of neuronal activity during seizures in zebrafish

(2017) L. Turrini et al.   Scientific Reports

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

(2016) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ineffective quinidine therapy in early onset epileptic encephalopathy withKCNT1mutation

(2016) Pin Fee Chong et al.   ANNALS OF NEUROLOGY

Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1

(2016) Grazia Della Sala et al.   BIOLOGICAL PSYCHIATRY

Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model forSTXBP1-related epileptic encephalopathy

(2016) Satoshi Yamashita et al.   EPILEPSIA

Clinical implications ofSCN1Amissense and truncation variants in a large Japanese cohort with Dravet syndrome

(2016) Atsushi Ishii et al.   EPILEPSIA

Infantile spasms and encephalopathy without preceding neonatal seizures caused byKCNQ2R198Q, a gain-of-function variant

(2016) John J. Millichap et al.   EPILEPSIA

Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients

(2016) A. Schoonjans et al.   EUROPEAN JOURNAL OF NEUROLOGY

Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome

(2016) P. Kurbatova et al.   EXPERIMENTAL NEUROLOGY

CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice

(2016) S. Sivilia et al.   GENES BRAIN AND BEHAVIOR

Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome

(2016) Hiroshi Maeda et al.   JOURNAL OF HUMAN GENETICS

KCNT1mutations in seizure disorders: the phenotypic spectrum and functional effects

(2016) Chiao Xin Lim et al.   JOURNAL OF MEDICAL GENETICS

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

(2016) Stephanie Fehr et al.   NEUROLOGY

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome

(2016) Hélène Darville et al.   EBioMedicine

CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization

(2016) Mohammad Sarfaraz Nawaz et al.   PLoS One

Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)

(2016) Kim Wager et al.   PLoS One

Characterisation of CDKL5 Transcript Isoforms in Human and Mouse

(2016) Ralph D. Hector et al.   PLoS One

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy

(2016) Federico Sicca et al.   Scientific Reports

Variable clinical expression in patients with mosaicism forKCNQ2mutations

(2015) Mathieu Milh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Quinidine in the treatment of KCNT1-positive epilepsies

(2015) Mohamad A Mikati et al.   ANNALS OF NEUROLOGY

There is variability in the attainment of developmental milestones in the CDKL5 disorder

(2015) Stephanie Fehr et al.   Journal of Neurodevelopmental Disorders

Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of Kv7.2 and Kv7.3 Potassium Channel Subunits

(2015) F. Miceli et al.   JOURNAL OF NEUROSCIENCE

hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells

(2015) Brooke A. DeRosa et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome

(2015) Moran Rubinstein et al.   NEUROBIOLOGY OF DISEASE

Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome

(2015) Franck Kalume et al.   NEUROBIOLOGY OF DISEASE

Concise Review: Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells

(2015) Andrew M. Tidball et al.   STEM CELLS

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

(2015) Jacy L. Wagnon et al.   Frontiers in Neurology

Targeted treatment of migrating partial seizures of infancy with quinidine

(2014) David Bearden et al.   ANNALS OF NEUROLOGY

KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine

(2014) Carol J. Milligan et al.   ANNALS OF NEUROLOGY

Axonal Kv7.2/7.3 channels

(2014) Maarten HP Kole et al.   Channels

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

(2014) Gabriella Livide et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

(2014) Jacy L. Wagnon et al.   HUMAN MOLECULAR GENETICS

Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling

(2014) Claudia Fuchs et al.   NEUROBIOLOGY OF DISEASE

Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome

(2014) C. Tai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2014) Slavé Petrovski et al.   PLoS Genetics

A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation

(2013) Fahad Mahmood et al.   BRAIN

Directed Differentiation and Functional Maturation of Cortical Interneurons from Human Embryonic Stem Cells

(2013) Asif M. Maroof et al.   Cell Stem Cell

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

(2013) F. Mahmood et al.   Disease Models & Mechanisms

EEG-fMRI in atypical benign partial epilepsy

(2013) Friederike Moeller et al.   EPILEPSIA

Functional neuroimaging in epileptic encephalopathies

(2013) Michael Siniatchkin et al.   EPILEPSIA

NovelKCNQ2andKCNQ3Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

(2013) Maria Virginia Soldovieri et al.   HUMAN MUTATION

De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

(2013) Ulvi Vaher et al.   JOURNAL OF CHILD NEUROLOGY

Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

(2013) Adeline Vanderver et al.   PEDIATRIC NEUROLOGY

Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development

(2013) Y.-C. Zhu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits

(2013) Francesco Miceli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment

(2013) Scott C. Baraban et al.   Nature Communications

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent mutations in theCDKL5gene: Genotype-phenotype relationships

(2012) Nadia Bahi-Buisson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells

(2012) Emanuele Valli et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Deep phenotyping for precision medicine

(2012) Peter N. Robinson   HUMAN MUTATION

Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression

(2012) Gabsang Lee et al.   NATURE BIOTECHNOLOGY

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

(2012) Sara Ricciardi et al.   NATURE CELL BIOLOGY

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

Diving Through the “-Omics”: The Case for Deep Phenotyping and Systems Epidemiology

(2012) Robin Haring et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Historic, Clinical, and Prognostic Features of Epileptic Encephalopathies Caused by CDKL5 Mutations

(2012) Brian D. Moseley et al.   PEDIATRIC NEUROLOGY

Blinders, phenotype, and fashionable genetic analysis: A critical examination of the current state of epilepsy genetic studies

(2011) David A. Greenberg et al.   EPILEPSIA

‘Deep phenotyping’: characterizing populations in the era of genomics and systems biology

(2009) Russell P Tracy   CURRENT OPINION IN LIPIDOLOGY

Developmental changes in KCNQ2 and KCNQ3 expression in human brain: Possible contribution to the age-dependent etiology of benign familial neonatal convulsions

(2008) Takeshi Kanaumi et al.   BRAIN & DEVELOPMENT

Low expression of Kv7/M channels facilitates intrinsic and network bursting in the developing rat hippocampus

(2008) Victoria F. Safiulina et al.   JOURNAL OF PHYSIOLOGY-LONDON

Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorders

(2008) Stormy J. Chamberlain et al.   NEUROGENETICS