R. Guerrini

Publications763
h-index88
Citations28,339
Highly Influential Citations1,240
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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… Expand
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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… Expand
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A developmental and genetic classification for malformations of cortical development
Increasing recognition of malformations of cortical development and continuing improvements in imaging techniques, molecular biologic techniques, and knowledge of mechanisms of brain development have… Expand
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A developmental and genetic classification for malformations of cortical development: update 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders… Expand
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
The genetic causes of malformations of cortical development (MCD) remain largely unknown. Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well… Expand
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Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy
Summary: Purpose: In severe myoclonic epilepsy of infancy (SME), multiple drug‐resistant focal and generalized seizure types occur. Lamotrigine (LTG), found effective in many generalized and partial… Expand
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Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy
We recently reported mutations in the sodium channel gene SCN2A in two families with benign familial neonatal‐infantile seizures (BFNISs). Here, we aimed to refine the molecular‐clinical correlation… Expand
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Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation
We recently identified mutations of ARX in nine genotypic males with X‐linked lissencephaly with abnormal genitalia (XLAG), and in several female relatives with isolated agenesis of the corpus… Expand
  • 270
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked… Expand
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Malformations of cortical development: clinical features and genetic causes
Malformations of cortical development are common causes of developmental delay and epilepsy. Some patients have early, severe neurological impairment, but others have epilepsy or unexpected deficits… Expand
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