Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

Roberto Michelucci, Juan José Poza, Vito Sofia, +21

Epilepsia

Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

Emanuela Dazzo, Manuela Fanciulli, Elena Serioli, +20

The American Journal of Human Genetics

Mendelian DisorderNeurological DisorderGenetic DisorderNeurologyNeuroscience +2

A 2.4-Megabase Physical Map Spanning the CYP2C Gene Cluster on Chromosome 10q24

Ian C. Gray, Carlo Nobile, Rosella Muresu, +2

Genomics

ChromatinCytogeneticsGenetics2.4-Megabase Physical MapGenome Structure +10

Investigating the Mechanism of Chromosomal Deletion: Characterization of 39 Deletion Breakpoints in Introns 47 and 48 of the Human Dystrophin Gene

Luisa Toffolatti, Barbara Cardazzo, Carlo Nobile, +7

Genomics

Genome InstabilityDeletion BreakpointsGenetic DisorderGeneticsChromosomal Deletion +7

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

Theologia Sarafidou, Christina Kahl, Isabel Martínez‐Garay, +17

Genomics

ChromatinGenome InstabilityNovel GeneGenetic DisorderGenetics +9

Analysis of 22 deletion breakpoints in dystrophin intron 49

Carlo Nobile, Luisa Toffolatti, Francesca Rizzi, +6

Human Genetics

Musculoskeletal ResearchDeletion BreakpointsMolecular BiologyDegenerative Disease

Familial mesial temporal lobe epilepsy (FMTLE)

Pasquale Striano, Antonio Gambardella, Antonietta Coppola, +17

Journal of Neurology

Neuropsychological FunctioningNeuropsychologyNeurological DisorderNeuropsychiatryNeurology +6

A DE NOVO <i>LGI1</i> MUTATION CAUSING IDIOPATHIC PARTIAL EPILEPSY WITH TELEPHONE-INDUCED SEIZURES

Roberto Michelucci, Oriano Mecarelli, Giorgia Bovo, +6

Neurology

NeuropsychologyNeurological DisorderGeneticsTelephone-induced SeizuresClinical Neurology +21

Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors

Emanuela Dazzo, Emanuela Leonardi, Elisa Belluzzi, +5

PLoS Genetics

Protein SecretionProtein FunctionSignal TransductionSecretion-positive Lgi1 MutationsGenetics +13

cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322

M. Graziella Persico, Daniela Toniolo, Carlo Nobile, +2

Nature

BiosynthesisCellular EnzymologyBiochemistryNatural SciencesBiochemical Genetics +4