About: Elena Parrini

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

researcher

Attributes	Values
rdf:type	Item
description	researcher (en) 연구원 (ko) গবেষক (bn) 研究者 (ja) chercheuse (fr) investigadora (es) ഗവേഷക (ml) wetenschapper (nl) дослідниця (uk) эрдэмтэн (mn) वैज्ञानिक (hi) изилдөөчү (ky) 研究者 (zh) հետազոտող (hy) researcher (en-ca) researcher (en-gb) researcher (en-us) hulumtuese (sq) ricercatrice (it) investigadora (ca) investigadora (gl) investigadora (pt) investigadora (ast)
rdfs:label	Elena Parrini (en) Elena Parrini (es) Elena Parrini (it) Elena Parrini (nl) Elena Parrini (sl) Elena Parrini (ast)
skos:prefLabel	Elena Parrini (en) Elena Parrini (es) Elena Parrini (it) Elena Parrini (nl) Elena Parrini (sl) Elena Parrini (ast)
name	Elena Parrini (en) Elena Parrini (es) Elena Parrini (it) Elena Parrini (nl) Elena Parrini (sl) Elena Parrini (ast)
Scopus author ID	wds:Q41259406-E5646942-F111-433C-8D54-C57A4ED5EF8B
Scopus author ID	6602498156
given name	wds:Q41259406-69340258-4047-3a99-6ea4-6df131521921
given name	Elena
instance of	wds:Q41259406-06353614-511B-4613-9277-0A5E2E49823A
instance of	Homo sapiens
occupation	wds:Q41259406-AD32A48E-F093-4A56-B3B5-F1001CA65666
sex or gender	wds:Q41259406-9393FE5F-E049-4C2D-A82A-4C4C503022FB
family name	wds:Q41259406-39679dfa-40bf-198d-9fbe-dead25e564a3
occupation	researcher
sex or gender	female organism
family name	Parrini
ORCID iD	wds:Q41259406-041A2FB3-F93B-4AB7-A3BC-3F62681F4B03
ORCID iD	https://orcid.org/0000-0001-8933-7694
ORCID iD	0000-0001-8933-7694
FLORE author ID	wds:Q41259406-9E0D04EB-A7F7-4837-A3A3-69102362AA84
FLORE author ID	21336
ResearcherID	wds:Q41259406-A9A8D711-E180-4743-9A68-6ED7FBB91AAF
Publons author ID	wds:Q41259406-496b5dfd-7c34-4701-8153-7f20ed25beaa
ResearcherID	K-5283-2016
Publons author ID	2240279
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q41259406
is author of	Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Neuronal migration disorders Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis Somatic mutations in cerebral cortical malformations In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. Co-occurring malformations of cortical development and SCN1A gene mutations Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. Genetic Basis of Brain Malformations Lissencephaly: Expanded imaging and clinical classification. Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. Periventricular nodular heterotopia in Smith-Magenis syndrome Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity FLNA genomic rearrangements cause periventricular nodular heterotopia

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