about
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.Neuroimaging Changes in Menkes Disease, Part 2.Neuroimaging Changes in Menkes Disease, Part 1.Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study.Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients.Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children.Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).Epilepsy in ring chromosome 20 syndrome.Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study.Refining the phenotype associated with MEF2C haploinsufficiency.Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.Temporal lobe epilepsy in children: electroclinical study of 77 cases.Electroclinical findings in four patients with karyotype 47,XYY.Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.Benign myoclonic epilepsy in infancy (BMEI): a longitudinal electroclinical study of 22 cases.Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients.Clinical dissection of early onset absence epilepsy in children and prognostic implications.Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20.Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.EEG findings during "paroxysmal hemiplegia" in a patient with GLUT1-deficiency.Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.Absence seizures in the first 3 years of life: an electroclinical study of 46 cases.The ketogenic diet in patients with myoclonic status in non-progressive encephalopathy.A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome?Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I.Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients.Different clinical and immunological presentation of ataxia-telangiectasia within the same family.Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study.Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A MutationsCognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Francesca Darra
@ast
Francesca Darra
@en
Francesca Darra
@es
Francesca Darra
@nl
type
label
Francesca Darra
@ast
Francesca Darra
@en
Francesca Darra
@es
Francesca Darra
@nl
prefLabel
Francesca Darra
@ast
Francesca Darra
@en
Francesca Darra
@es
Francesca Darra
@nl
P1053
J-7297-2018
P106
P1153
24075226200
P21
P31
P496
0000-0002-1062-8438