A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
Journal
Journal of Human Genetics
ISSN
1434-5161
1435-232X
Date Issued
2020
Author(s)
Masamune Sakamoto
Den Kouhei
Muzhirah Haniffa
Sebastián Silva
Mónica Troncoso
Paola Santander
Valeria Schonstedt
Nobuhiko Okamoto
Kohei Hamanaka
Takeshi Mizuguchi
Satomi Mitsuhashi
Noriko Miyake
Naomichi Matsumoto
Type
Resource Types::text::journal::journal article
Subjects
brain diseases
;
corpus callosum
;
developmental disabilities
;
epilepsy
;
female
;
genetic predisposition to disease
;
genotype
;
homozygote
;
humans
;
infant
;
magnetic resonance imaging
;
male
;
multiple organ failure
;
muscle hypotonia
;
mutation
;
pedigree
;
pyramidal tracts
;
pyrophosphatases
;
whole exome sequencing
;
genomic dna
;
inorganic pyrophosphatase
;
inorganic pyrophosphatase
;
itpa protein, human
;
anterior fontanel
;
apnea
;
article
;
autosomal dominant inheritance
;
birth weight
;
brain atrophy
;
brain disease
;
brain stem
;
capsula interna
;
case report
;
clinical article
;
clinical feature
;
computer assisted tomography
;
corpus callosum
;
developmental delay
;
electroencephalogram
;
epilepsy
;
female
;
fever
;
gaze
;
gene frequency
;
genetic analysis
;
genetic variability
;
genetic variation
;
human
;
infant
;
intractable epilepsy
;
long philtrum
;
low set ear
;
male
;
microcephaly
;
multiple organ failure
;
muscle hypotonia
;
myelination
;
nuclear magnetic resonance imaging
;
pneumonia
;
pyramidal tract
;
sanger sequencing
;
seizure
;
short nose
;
whole exome sequencing
;
brain disease
;
complication
;
developmental disorder
;
diagnostic imaging
;
enzymology
;
epilepsy
;
genetic predisposition
;
genetics
;
genotype
;
homozygote
;
mortality
;
multiple organ failure
;
mutation
;
pathology
;
pedigree