about
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.Neuropsychological impairment in early-onset hydrocephalus and epilepsy with continuous spike-waves during slow-wave sleep: A case report and literature review.Co-occurring malformations of cortical development and SCN1A gene mutations.Neuropsychological implications of adjunctive levetiracetam in childhood epilepsyHomozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.Long-term follow-up of cognitive functions in patients with continuous spike-waves during sleep (CSWS).The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.Neuropsychological findings in childhood narcolepsy.Life-threatening complications of posterior reversible encephalopathy syndrome in children.Prognostic factors of drug-resistant epilepsy in childhood: An Italian study.Neuropsychological profile in Italian children with neurofibromatosis type 1 (NF1) and their relationships with neuroradiological data: Preliminary results.Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Antonia Parmeggiani
@en
Antonia Parmeggiani
@nl
type
label
Antonia Parmeggiani
@en
Antonia Parmeggiani
@nl
prefLabel
Antonia Parmeggiani
@en
Antonia Parmeggiani
@nl
P31
P496
0000-0002-6849-0830