Renzo Guerrini

Subcortical structures and infantile spasms.

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.

Malformations of cortical development and epilepsy.

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.

Neuronal migration disorders.

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry.

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.

Oral topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia: a safety study.

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.

The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission.

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Extremely sustained startle-induced clonus: non epileptic motor attacks mimicking clonic seizures in children with encephalopathy.

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

A developmental and genetic classification for malformations of cortical development: update 2012.

Focal cortical dysplasia type IIb in the rolandic cortex: functional reorganization after early surgery documented by passive task functional MRI.

Safety and tolerability of antiepileptic drug treatment in children with epilepsy.

Dravet syndrome: the main issues.

Age-related epileptic encephalopathies.

Benign childhood focal epilepsies.

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI).

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

New clinical and molecular insights on Barth syndrome.

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

Language regression associated with autistic regression and electroencephalographic (EEG) abnormalities: a prospective study.

Myoclonus and epilepsy.

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.

A randomized phase III trial of adjunctive zonisamide in pediatric patients with partial epilepsy.

Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.

Galactosialidosis: review and analysis of CTSA gene mutations.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

Somatic overgrowth predisposes to seizures in autism spectrum disorders.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

Making memories: the development of long-term visual knowledge in children with visual agnosia.

Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I.

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Adjunctive zonisamide therapy in the long-term treatment of children with partial epilepsy: results of an open-label extension study of a phase III, randomized, double-blind, placebo-controlled trial.

Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

Pathogenetic mechanisms of focal cortical dysplasia.

Late-onset epileptic spasms: clinical evidence and outcome in 34 patients.

Malformations of cortical development: clinical features and genetic causes.

How can advances in epilepsy genetics lead to better treatments and cures?

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.

Epilepsy phenotypes and genotype determinants: Identical twins teach lessons on complexity.

Dried blood spot assay for the quantification of phenytoin using Liquid Chromatography-Mass Spectrometry.

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit?

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.

Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry.

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.

Early and effective treatment of KCNQ2 encephalopathy.

Malformations of cortical development and epilepsy.

A versatile clearing agent for multi-modal brain imaging.

A prospective study of direct medical costs in a large cohort of consecutively enrolled patients with refractory epilepsy in Italy.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.

Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis.

Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation.

Antiepileptic Drug Treatment in Children with Epilepsy.

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01).

Dravet syndrome: Not just epilepsy.

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.

Genetic Basis of Brain Malformations.

Epilepsy in ring chromosome 20 syndrome.

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

Isolated recurrent myelitis in a 7-year-old child with serum aquaporin-4 IgG antibodies.

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Age-related differences in audiovisual interactions of semantically different stimuli.

Mycophenolate mofetil as induction and long-term maintaining treatment in childhood: Primary angiitis of the central nervous system.

Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children.

Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility study.

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Hemicerebellitis can drive handedness shift.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.