Phenotype definition in epilepsy (Q36404635)

14 August 2017

1 reference

title

Phenotype definition in epilepsy (English)

1 reference

14 August 2017

1 reference

Melodie R Winawer

1

1 reference

14 August 2017

23 February 2006

1 reference

14 August 2017

1 reference

14 August 2017

8

1 reference

14 August 2017

3

1 reference

14 August 2017

462-476

1 reference

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

14 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Sodium-channel defects in benign familial neonatal-infantile seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Mutations in EFHC1 cause juvenile myoclonic epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Prevalence of epilepsy in Rochester, Minnesota: 1940-1980.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the Commission on Classification and Terminology of the International League Against Epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Analysis of genetically complex epilepsies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

How to model a complex trait. 2. Analysis with two disease loci

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Relations of genetic and environmental factors in the etiology of epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Defining the phenotype in human genetic studies: forward genetics and reverse phenotyping

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Effects of stratification in the analysis of affected-sib-pair data: benefits and costs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Concordance of disease form in kindreds ascertained through affected individuals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genetic epidemiology of epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

7 January 2021

Mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Family history of seizures in posttraumatic and alcohol-associated seizure disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genetical genomics: combining genetics with gene expression analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The Development of the Electroencephalogram in Normal Children from the Age of 1 Through 15 Years – Paroxysmal activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

7 January 2021

The genetics of epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A new epileptic seizure classification based exclusively on ictal semiology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Semiological seizure classification

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Clinical methods in psychiatric genetics. I. Robustness of genetic marker investigative strategies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Mapping complex disease loci in whole-genome association studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Discovering endophenotypes for major depression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The cognitive neuroscience of response inhibition: relevance for genetic research in attention-deficit/hyperactivity disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The endophenotype concept in psychiatry: etymology and strategic intentions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

On the Genetics of EEG-Anomalies in Childhood(1)– III. Spikes and waves

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

On the Genetics of EEG-Anomalies in Childhood(1) – IV. Photoconvulsive reaction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The Relation of Focal to Diffuse Epileptiform EEG Discharges in Genetic Epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Familial occurrence of focal temporal electroencephalographic abnormalities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Benign epilepsy of childhood with centrotemporal EEG foci: a genetic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genetics of the partial epilepsies: a review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Magnetic resonance imaging evidence of hippocampal sclerosis in asymptomatic, first-degree relatives of patients with familial mesial temporal lobe epilepsy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Magnetic resonance imaging evidence of hippocampal injury after prolonged focal febrile convulsions.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Early childhood prolonged febrile convulsions, atrophy and sclerosis of mesial structures, and temporal lobe epilepsy: an MRI volumetric study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Seizure outcome and hippocampal atrophy in familial mesial temporal lobe epilepsy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The pathogenic and progressive features of chronic human hippocampal epilepsy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Effectiveness of multiple EEGs in supporting the diagnosis of epilepsy: an operational curve

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Empirically derived phenotypic subgroups - qualitative and quantitative trait analyses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Familiality of symptom dimensions in depression.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genetic epidemiology: disease susceptibility and severity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Cluster analysis of MCMI and MCMI-II on chronic PTSD victims

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Clusters in a cohort of untreated schizophrenia: prognostic importance, atypical cases and the familial versus sporadic distinction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Cluster analysis of clinical seizure semiology of psychogenic nonepileptic seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A principal-components approach based on heritability for combining phenotype information

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Evidence for distinct genetic influences on generalized and localization-related epilepsy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genetic influences on myoclonic and absence seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Familial clustering of seizure types within the idiopathic generalized epilepsies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Geno2pheno: Estimating phenotypic drug resistance from HIV-1 genotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genome-wide linkage analysis of systolic blood pressure: a comparison of two approaches to phenotype definition

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Measuring the inflation of the lod score due to its maximization over model parameter values in human linkage analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The heredity of epilepsy as told by relatives and twins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Seizure risk in offspring of parents with generalized versus partial epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Are generalized and localization-related epilepsies genetically distinct?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Familial occurrence of epilepsy in children with newly diagnosed multiple seizures: Dutch Study of Epilepsy in Childhood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Occurrence of epilepsies in family members of Indian probands with different epileptic syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Concordance of clinical forms of epilepsy in families with several affected members. Italian League Against Epilepsy Genetic Collaborative Group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Children with familial cryptogenic epilepsy have a favorable seizure prognosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Epilepsies in twins: genetics of the major epilepsy syndromes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Epileptic seizures and syndromes in twins: the importance of genetic factors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Association between genetic variation of CACNA1H and childhood absence epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genetic variation of CACNA1H in idiopathic generalized epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Absence epilepsy of early childhood--genetic aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The outcome of absence epilepsy: a meta-analysis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Turning on the heat: the search for febrile seizure genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Prenatal and perinatal antecedents of febrile seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Risk factors for a first febrile seizure: a matched case-control study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Status epilepticus in a population-based Virginia twin sample

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Evidence for a genetic predisposition for status epilepticus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Incidence of seizures and EEG abnormalities among offspring of epileptic patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

LGI1 mutations in temporal lobe epilepsies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Familial temporal lobe epilepsy: a clinically heterogeneous syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Mild non-lesional temporal lobe epilepsy. A common, unrecognized disorder with onset in adulthood.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Familial temporal lobe epilepsy with febrile seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Temporal lobe epilepsy of adult age of possible idiopathic nature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Familial temporal lobe epilepsy: a common disorder identified in twins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The role of common variation in drug transporter genes in refractory epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter GeneABCB1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Is refractory epilepsy due to genetically determined resistance to antiepileptic drugs?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Re-investigation of the concordance of human NAT2 phenotypes and genotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Electroclinical characteristics of seizures-comparing Prader--Willi syndrome with Angelman syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

SCN1A mutations and epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Linkage of bipolar disorder to chromosome 18q and the validity of bipolar II disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Gene expression profiling: a new tool for pediatric neurology?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Blood gene expression profiling of neurologic diseases: a pilot microarray study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Familial aggregation studies. A note on their epidemiologic properties

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

The future of genetic studies of complex human diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Parameters for reliable results in genetic association studies in common disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.01.012

10.1016/J.YEBEH.2006.01.012

7 January 2021

Identifiers

DOI

1 reference

14 August 2017

1 reference

PubMed ID

16497563