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

^*Corresponding author af dette arbejde

Filadelfia

Publikation: Bidrag til tidsskrift › Kommentar/debat › Forskning

Originalsprog	Engelsk
Sider (fra-til)	445-446
Antal sider	2
Tidsskrift	Epileptic Disorders
Vol/bind	24
Udgave nummer	2
DOI	https://doi.org/10.1684/epd.2021.1407
Status	Udgivet - 1 apr. 2022

Adgang til dokumentet

10.1684/epd.2021.1407

Citationsformater

@article{470a9915128842c48eb957840d03d3b0,

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,

day = "1",

doi = "10.1684/epd.2021.1407",

language = "English",

volume = "24",

pages = "445--446",

journal = "Epileptic Disorders",

issn = "1294-9361",

publisher = "Wiley-Blackwell",

number = "2",

}

TY - JOUR

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

AU - Rubboli, Guido

AU - Johannesen, Katrine M

PY - 2022/4/1

Y1 - 2022/4/1

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

SN - 1294-9361

VL - 24

SP - 445

EP - 446

JO - Epileptic Disorders

JF - Epileptic Disorders

IS - 2

ER -