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Molecular Syndromology
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April 8, 2024
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19
Giulia Parmeggiani, Raffaella Minardi, Antonella Boni, et al.
Genes
|
March 28, 2026
SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease
Lorenzo Allegri, Federica Baldan, Catia Mio, et al.
Neurology
|
March 12, 2020
Low CSF hypocretin-1 levels in an adult patient with hypothalamic hamartoma
Lorenzo Muccioli, Francesca Bisulli, Laura Licchetta, et al.
Epilepsy & Behavior Reports
|
May 27, 2022
FDG-PET findings and alcohol-responsive myoclonus in a patient with Unverricht-Lundborg disease
Lorenzo Muccioli, Andrea Farolfi, Federica Pondrelli, et al.
Neurology. Clinical Practice
|
August 22, 2025
Sleep and Awake EEG Findings in a Patient With Lafora Disease: From Presymptomatic to Overt Disease Stage
Elena Pasini, Greta Mainieri, Irene Minardi, et al.
Neurology. Genetics
|
November 16, 2022
Complete Agenesis of Corpus Callosum in <i>KCNQ2</i>-Related Neonatal Epileptic Encephalopathy
Laura Licchetta, Raffaella Minardi, Lorenzo Muccioli, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
July 17, 2025
Novel ADGRV1 pathogenic variant associated to sleep-related hypermotor epilepsy
Angelo Russo, Silvia Lelli, Carlo Alberto Cesaroni, et al.
Seizure
|
November 11, 2017
A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation
Lorenzo Ferri, Francesca Bisulli, Roberto Mai, et al.
Epilepsia
|
October 24, 2006
Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree
Elena Gardella, Paolo Tinuper, Carla Marini, et al.
Epilepsia
|
June 14, 2018
Effect of valproic acid on perampanel pharmacokinetics in patients with epilepsy
Manuela Contin, Francesca Bisulli, Margherita Santucci, et al.
Page
of 24
Search research articles
Search
Showing results (61-70 of 236) with videos related to
Sort By:
Page
of 24
Molecular Syndromology
|
April 8, 2024
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19
Giulia Parmeggiani, Raffaella Minardi, Antonella Boni, et al.
Genes
|
March 28, 2026
SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease
Lorenzo Allegri, Federica Baldan, Catia Mio, et al.
Neurology
|
March 12, 2020
Low CSF hypocretin-1 levels in an adult patient with hypothalamic hamartoma
Lorenzo Muccioli, Francesca Bisulli, Laura Licchetta, et al.
Epilepsy & Behavior Reports
|
May 27, 2022
FDG-PET findings and alcohol-responsive myoclonus in a patient with Unverricht-Lundborg disease
Lorenzo Muccioli, Andrea Farolfi, Federica Pondrelli, et al.
Neurology. Clinical Practice
|
August 22, 2025
Sleep and Awake EEG Findings in a Patient With Lafora Disease: From Presymptomatic to Overt Disease Stage
Elena Pasini, Greta Mainieri, Irene Minardi, et al.
Neurology. Genetics
|
November 16, 2022
Complete Agenesis of Corpus Callosum in <i>KCNQ2</i>-Related Neonatal Epileptic Encephalopathy
Laura Licchetta, Raffaella Minardi, Lorenzo Muccioli, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
July 17, 2025
Novel ADGRV1 pathogenic variant associated to sleep-related hypermotor epilepsy
Angelo Russo, Silvia Lelli, Carlo Alberto Cesaroni, et al.
Seizure
|
November 11, 2017
A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation
Lorenzo Ferri, Francesca Bisulli, Roberto Mai, et al.
Epilepsia
|
October 24, 2006
Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree
Elena Gardella, Paolo Tinuper, Carla Marini, et al.
Epilepsia
|
June 14, 2018
Effect of valproic acid on perampanel pharmacokinetics in patients with epilepsy
Manuela Contin, Francesca Bisulli, Margherita Santucci, et al.
Page
of 24