What is he best known for?
The fields of study he is best known for:
Genetics, Missense mutation, Mutation, Epilepsy and Locus are his primary areas of study.
As part of his studies on Genetics, Eric LeGuern often connects relevant subjects like Dravet syndrome.
His work deals with themes such as Molecular genetics, Mutant and Allele, which intersect with Missense mutation.
His primary area of study in Mutation is in the field of Point mutation.
He has researched Epilepsy in several fields, including Exome sequencing, DEPDC5, Bioinformatics, Generalized epilepsy with febrile seizures plus and SCN1B.
His study looks at the relationship between Locus and topics such as Genetic linkage, which overlap with Corpus callosum, Paraplegia and Genetic heterogeneity.
His most cited work include:
- Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. (825 citations)
- First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. (672 citations)
- Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 (393 citations)
What are the main themes of his work throughout his whole career to date?
Eric LeGuern mainly focuses on Genetics, Epilepsy, Mutation, Gene and Pathology.
Locus, Missense mutation, Phenotype, Exon and Chromosome are subfields of Genetics in which his conducts study.
His biological study spans a wide range of topics, including Exome sequencing, Generalized epilepsy with febrile seizures plus, DEPDC5 and Bioinformatics.
As a member of one scientific family, Eric LeGuern mostly works in the field of Generalized epilepsy with febrile seizures plus, focusing on SCN1B and, on occasion, GABRG2.
His Mutation research is multidisciplinary, incorporating perspectives in Loss function, Allele, Endocrinology and Dravet syndrome.
His Pathology research is multidisciplinary, incorporating elements of Central nervous system disease and Motor nerve.
He most often published in these fields:
- Genetics (65.62%)
- Epilepsy (31.70%)
- Mutation (24.11%)
What were the highlights of his more recent work (between 2014-2021)?
- Genetics (65.62%)
- Epilepsy (31.70%)
- Phenotype (11.16%)
In recent papers he was focusing on the following fields of study:
The scientist’s investigation covers issues in Genetics, Epilepsy, Phenotype, Mutation and Bioinformatics.
His work on Gene, Missense mutation, Locus and Genetic testing as part of his general Genetics study is frequently connected to Spastic, thereby bridging the divide between different branches of science.
The concepts of his Locus study are interwoven with issues in Candidate gene, DNA Repeat Expansion, Genetic heterogeneity and Myoclonic epilepsy.
Eric LeGuern combines subjects such as Intellectual disability and DEPDC5 with his study of Epilepsy.
His Phenotype research incorporates themes from Disease and Proband.
The Mutation study combines topics in areas such as Aplasia and Cohort.
Between 2014 and 2021, his most popular works were:
- Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations (145 citations)
- Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy (67 citations)
- Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. (66 citations)
In his most recent research, the most cited papers focused on:
Eric LeGuern focuses on Genetics, Epilepsy, Cortical dysplasia, DEPDC5 and Phenotype.
His study in Missense mutation, DNA sequencing, Loss function, Locus and Gene is carried out as part of his studies in Genetics.
The study incorporates disciplines such as C9orf72, Generalized epilepsy and Conditional gene knockout in addition to Missense mutation.
Eric LeGuern has included themes like Bioinformatics, Mutation, Genetic association, Genetic variation and Cohort in his Epilepsy study.
His DEPDC5 study integrates concerns from other disciplines, such as NPRL3, Neuroscience and Pathology.
His Phenotype research incorporates elements of Internal medicine, Cholesterol and Endocrinology.
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