R. Guerrini

Publications854
h-index94
Citations33,893
Highly Influential Citations1,313
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The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission 1
Purpose:  Focal cortical dysplasias (FCD) are localized regions of malformed cerebral cortex and are very frequently associated with epilepsy in both children and adults. A broad spectrum of…
Terminology and classification of the cortical dysplasias
Background: There have been difficulties in achieving a uniform terminology in the literature regarding issues of classification with respect to focal cortical dysplasias (FCDs) associated with…
A developmental and genetic classification for malformations of cortical development
TLDR
A revised classification based on the stage of development at which cortical development was first affected is proposed, using genotype, rather than phenotype, as the basis for classifying disorders wherever the genotype–phenotype relationship is adequately understood.
A developmental and genetic classification for malformations of cortical development: update 2012
TLDR
This review addresses recent changes in the perception of malformations of cerebral cortical development and proposes a modified classification based upon updates in the knowledge of cerebral cortex development.
Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
TLDR
The discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD are reported, suggesting that microtubule-dependent mitotic and postmitotic processes are major contributors to the pathogenesis of MCD.
Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy
TLDR
Lamotrigine (LTG), found effective in many generalized and partial seizures, has been little used in severe childhood epilepsy syndromes with multiple seizure types and the effects of LTG in SME are studied.
Congenital bilateral perisylvian syndrome: study of 31 patients
Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation
TLDR
The group of phenotypes associated with ARX mutations demonstrates remarkable pleiotropy, but also comprises a nearly continuous series of developmental disorders that begins with hydranencephaly, lissencephally, and agenesis of the corpus callosum, and ends with a series of overlapping syndromes with apparently normal brain structure.
Malformations of cortical development: clinical features and genetic causes
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