[HTML][HTML] Heart rate variability alterations in Dravet Syndrome: The role of status epilepticus and a possible association with mortality risk

M Perulli, A Battista, S Sivo, I Turrini, E Musto…�- Seizure, 2022 - Elsevier
Purpose Preliminary data suggest that patients with Dravet Syndrome (DS) have a reduced
heart rate variability (HRV). This seems particularly evident in patients who experienced�…

Cortical myoclonus in Angelman syndrome

R Guerrini, P Bonanni, TM de Lorey…�- Annals of Neurology�…, 1996 - Wiley Online Library
Angelman syndrome (AS) results from lack of genetic contribution from maternal
chromosome 15q11–13. This region encompasses three GABAA receptor subunit genes�…

Epilepsy and focal gyral anomalies detected by MRI: electroclinico‐morphological correlations and follow‐up

R Guerrini, C Dravet, C Raybaud…�- …�Medicine & Child�…, 1992 - Wiley Online Library
The authors studied 10 patients (mean age 15 years 6 months) with localized
developmental gyral disorder detected by MRI. There were two groups of major�…

Neuropsychological aspects of severe myoclonic epilepsy in infancy

C Cass�-Perrot, M Wolff, C Dravet�- Neuropsychology of childhood�…, 2001 - Springer
Severe Myoclonic Epilepsy in Infancy (SMEI) was first described in 198212 and recognized
as a syndrome in 1989. 7 This disorder is characterized by 1) a high familial incidence of�…

Abnormal neuroimaging in patients with benign epilepsy with centrotemporal spikes

P Gelisse, D Corda, C Raybaud, C Dravet…�- …, 2003 - Wiley Online Library
Purpose: Neuroimaging procedures are usually unnecessary in benign epilepsy of
childhood with centrotemporal spikes (BECTS) but are often performed before a specific�…

Lennox–Gastaut syndrome in adulthood: clinical and EEG features

E Ferlazzo, M Nikaronova, D Italiano, M Bureau…�- Epilepsy research, 2010 - Elsevier
PURPOSE: We performed a retrospective study to investigate seizure, EEG, social and
cognitive outcome in adult LGS subjects. METHODS: We retrospectively evaluated 27 LGS�…

Reflex seizures are frequent in patients with Down syndrome and epilepsy

R Guerrini, P Genton, M Bureau, C Dravet, J Roger�- Epilepsia, 1990 - Wiley Online Library
In a retrospective study of 30 Down syndrome (DS) patients with epilepsy, we found 6 cases
(20%) with reflex seizures. One patient had benign myoclonic epilepsy of infancy with�…

[HTML][HTML] Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

DI Battaglia, ML Gambardella, S Veltri, I Contaldo…�- Genes, 2021 - mdpi.com
Objective: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused
by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK)�…

Prevalence and signification of antinuclear and anticardiolipin antibodies in patients with epilepsy

D Verrot, M San-Marco, C Dravet, P Genton…�- The American journal of�…, 1997 - Elsevier
PURPOSE: To determine the prevalence of autoantibodies in patients with epilepsy and to
find a possible relationship between antinuclear antibodies (ANA) and/or anticardiolipin�…

Gamma knife surgery for mesial temporal lobe epilepsy

J R�gis, F Bartolomei, M Rey, P Genton, C Dravet…�- …, 1999 - Wiley Online Library
Purpose: Gamma knife radiosurgery (GK) allows precise and complete destruction of
chosen target structures containing healthy and/or pathologic cells, without significant�…