Expanding the phenotype of PURA-related developmental epileptic encephalopathy

Guido Rubboli; Katrine M. Johannesen

doi:10.1684/epd.2021.1407

Expanding the phenotype of PURA-related developmental epileptic encephalopathy

Guido Rubboli^*, Katrine M. Johannesen

^*Kontaktforfatter

IRS - Epilepsihospitalet Filadelfia

Publikation: Bidrag til tidsskrift › Kommentar/debat › Forskning › peer review

49 Downloads (Pure)

Originalsprog	Engelsk
Tidsskrift	Epileptic Disorders
Vol/bind	24
Udgave nummer	2
Sider (fra-til)	445-446
Antal sider	2
ISSN	1294-9361
DOI	https://doi.org/10.1684/epd.2021.1407
Status	Udgivet - apr. 2022

Dokumenter og links

10.1684/epd.2021.1407Licens: CC BY-SA

Open Access VersionForlagets udgivne version, 114 KBLicens: CC BY-SA

SDU link

Tjek adgangen til materialet i Syddansk Universitetsbiblioteks søgemaskine

Citationsformater

@article{640ccd02dc874c3f9d47f6101ab9f651,

title = "Expanding the phenotype of PURA-related developmental epileptic encephalopathy",

keywords = "Child, DNA-Binding Proteins/genetics, Developmental Disabilities/genetics, Epilepsy/genetics, Humans, Mutation, Phenotype, Spasms, Infantile, Transcription Factors/genetics",

author = "Guido Rubboli and Johannesen, {Katrine M.}",

year = "2022",

month = apr,

doi = "10.1684/epd.2021.1407",

language = "English",

volume = "24",

pages = "445--446",

journal = "Epileptic Disorders",

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T1 - Expanding the phenotype of PURA-related developmental epileptic encephalopathy

AU - Rubboli, Guido

AU - Johannesen, Katrine M.

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KW - Child

KW - DNA-Binding Proteins/genetics

KW - Developmental Disabilities/genetics

KW - Epilepsy/genetics

KW - Humans

KW - Mutation

KW - Phenotype

KW - Spasms, Infantile

KW - Transcription Factors/genetics

U2 - 10.1684/epd.2021.1407

DO - 10.1684/epd.2021.1407

M3 - Comment/debate

C2 - 34933843

AN - SCOPUS:85130862045

SN - 1294-9361

VL - 24

SP - 445

EP - 446

JO - Epileptic Disorders

JF - Epileptic Disorders

IS - 2

ER -