About: Sarah E Heron

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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) araştırmacı (tr) дослідниця (uk) باحت (ary) изилдөөчү (ky) 研究者 (zh) հետազոտող (hy) onderzoeker (nl) hulumtuese (sq)
rdfs:label	Sarah E Heron (en) Sarah E Heron (es) Sarah E Heron (nl) Sarah E Heron (sl) Sarah E Heron (ast)
skos:prefLabel	Sarah E Heron (en) Sarah E Heron (es) Sarah E Heron (nl) Sarah E Heron (sl) Sarah E Heron (ast)
name	Sarah E Heron (en) Sarah E Heron (es) Sarah E Heron (nl) Sarah E Heron (sl) Sarah E Heron (ast)
given name	wds:Q44256432-75A58430-A294-4FD3-8A98-9DD7BE720786
given name	Sarah
instance of	wds:Q44256432-CBD8F5A4-A222-46A4-B3FE-631B07B530A0
instance of	Homo sapiens
skos:altLabel	Sarah Heron (en)
occupation	wds:Q44256432-5F272EDE-0E3C-4010-958E-E21746D780F0
employer	wds:Q44256432-0AA6A1E3-9099-4908-ADF6-10EEDECFBD6E wds:Q44256432-59722B49-A573-4139-AA91-8CA62969FA57 wds:Q44256432-66109489-66FC-4B18-9019-232293062B10 wds:Q44256432-C22775FA-38E4-42AE-86A0-E486124248E3 wds:Q44256432-D777FA31-932D-489F-956D-3283BAAE81E4 wds:Q44256432-E511EA8D-4CB3-460A-A288-25BCFD64FFCC
sex or gender	wds:Q44256432-4CE050D3-D8F9-485F-BC26-C4FC0EF6D246
educated at	wds:Q44256432-09EA72B7-E070-4BE0-B84A-99E454C28AAE wds:Q44256432-42E7D45D-3323-4135-89CE-D8170288A5A5 wds:Q44256432-75A296B8-5A11-486F-872F-8DEEE8C1BE83
family name	wds:Q44256432-D8323655-2314-4076-A2E4-1B62B1DB7764
occupation	researcher
employer	John Ffowcs Williams SA Pathology University of Adelaide University of South Australia Women's and Children's Hospital
sex or gender	female organism
educated at	Flinders University University of Adelaide
family name	Heron
ORCID iD	wds:Q44256432-23B82637-2048-4274-813A-83D194C43A16
ORCID iD	https://orcid.org/0000-0001-8759-6748
ORCID iD	0000-0001-8759-6748
ResearcherID	wds:Q44256432-85821432-FAFE-44FB-9B19-76A593AF959B
Publons author ID	wds:Q44256432-d85fcca3-33f8-4d49-a581-bf876e9cf210
ResearcherID	F-4222-2013
Publons author ID	1330283
Mendeley person ID	wds:Q44256432-BEC25BB5-E72A-4A67-A234-FCCF3E8F83A2
Mendeley person ID	sarah-heron
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q44256432
is author of	Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy? Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy Sodium-channel defects in benign familial neonatal-infantile seizures Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants Genetic variation of CACNA1H in idiopathic generalized epilepsy Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26. Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. Mutations in KCNT1 cause a spectrum of focal epilepsies. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome A polygenic heterogeneity model for common epilepsies with complex genetics. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin Genetics of epilepsy: The testimony of twins in the molecular era KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy? A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3. Channelopathies in idiopathic epilepsy Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3 Novel Mutation in KCNQ2 Causing Benign Familial Neonatal Seizures

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