Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

M Krenn; A Knaus; DS Westphal; Saskia Wortmann; T Polster; FG Woermann; M Karenfort; E Mayatepek; T Meitinger; M Wagner; F Distelmaier

doi:10.1002/acn3.768

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

M Krenn, A Knaus, DS Westphal, Saskia Wortmann (Co-author), T Polster, FG Woermann, M Karenfort, E Mayatepek, T Meitinger, M Wagner, F Distelmaier

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

7 Citations (Web of Science)

Original language	English
Pages (from-to)	968-973
Journal	ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Volume	6
Issue number	5
DOIs	https://doi.org/10.1002/acn3.768
Publication status	Published - 2019

Keywords

DE-NOVO MUTATIONS
ALKALINE-PHOSPHATASE
DELAY
BIOSYNTHESIS
GENE

Access to Document

10.1002/acn3.768

Cite this

@article{dd9b38081488454781eda24477f7091c,

title = "Biallelic mutations in PIGP cause developmental and epileptic encephalopathy",

keywords = "DE-NOVO MUTATIONS, ALKALINE-PHOSPHATASE, DELAY, BIOSYNTHESIS, GENE",

author = "M Krenn and A Knaus and DS Westphal and Saskia Wortmann and T Polster and FG Woermann and M Karenfort and E Mayatepek and T Meitinger and M Wagner and F Distelmaier",

note = "Wortmann: University Children{\textquoteright}s Hospital, Paracelsus Medical University, Salzburg, Austria",

year = "2019",

doi = "10.1002/acn3.768",

language = "English",

volume = "6",

pages = "968--973",

journal = "ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY",

issn = "2328-9503",

number = "5",

}

TY - JOUR

T1 - Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

AU - Krenn, M

AU - Knaus, A

AU - Westphal, DS

AU - Wortmann, Saskia

AU - Polster, T

AU - Woermann, FG

AU - Karenfort, M

AU - Mayatepek, E

AU - Meitinger, T

AU - Wagner, M

AU - Distelmaier, F

N1 - Wortmann: University Children’s Hospital, Paracelsus Medical University, Salzburg, Austria

PY - 2019

Y1 - 2019

KW - DE-NOVO MUTATIONS

KW - ALKALINE-PHOSPHATASE

KW - DELAY

KW - BIOSYNTHESIS

KW - GENE

U2 - 10.1002/acn3.768

DO - 10.1002/acn3.768

M3 - Original Article

C2 - 31139695

SN - 2328-9503

VL - 6

SP - 968

EP - 973

JO - ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

JF - ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IS - 5

ER -