Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

S.H. Kevelam; J. Bierau; R. Salvarinova; S. Agrawal; T. Honzik; D. Visser; M.M. Weiss; G. Salomons; T.E.M. Abbink; Q. Waisfisz; M.S. van der Knaap

doi:10.1002/ana.24496

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

S.H. Kevelam
, J. Bierau
, R. Salvarinova
, S. Agrawal
, T. Honzik
, D. Visser
, M.M. Weiss
, G. Salomons
, T.E.M. Abbink
, Q. Waisfisz
, M.S. van der Knaap

Functional Genomics

Research output: Contribution to Journal › Article › Academic › peer-review

Abstract

Objective To identify the etiology of a novel, heritable encephalopathy in a small group of patients. Methods Magnetic resonance imaging (MRI) pattern analysis was used to select patients with the same pattern. Homozygosity mapping and whole exome sequencing (WES) were performed to find the causal gene mutations. Results Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T

Original language	English
Pages (from-to)	649-658
Journal	Annals of Neurology
Volume	78
Issue number	4
DOIs	https://doi.org/10.1002/ana.24496
Publication status	Published - 2015

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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10.1002/ana.24496

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title = "Recessive ITPA Mutations Cause an Early Infantile Encephalopathy",

abstract = "Objective To identify the etiology of a novel, heritable encephalopathy in a small group of patients. Methods Magnetic resonance imaging (MRI) pattern analysis was used to select patients with the same pattern. Homozygosity mapping and whole exome sequencing (WES) were performed to find the causal gene mutations. Results Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T",

author = "S.H. Kevelam and J. Bierau and R. Salvarinova and S. Agrawal and T. Honzik and D. Visser and M.M. Weiss and G. Salomons and T.E.M. Abbink and Q. Waisfisz and \{van der Knaap\}, M.S.",

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T1 - Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

AU - Kevelam, S.H.

AU - Bierau, J.

AU - Salvarinova, R.

AU - Agrawal, S.

AU - Honzik, T.

AU - Visser, D.

AU - Weiss, M.M.

AU - Salomons, G.

AU - Abbink, T.E.M.

AU - Waisfisz, Q.

AU - van der Knaap, M.S.

PY - 2015

Y1 - 2015

N2 - Objective To identify the etiology of a novel, heritable encephalopathy in a small group of patients. Methods Magnetic resonance imaging (MRI) pattern analysis was used to select patients with the same pattern. Homozygosity mapping and whole exome sequencing (WES) were performed to find the causal gene mutations. Results Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T

AB - Objective To identify the etiology of a novel, heritable encephalopathy in a small group of patients. Methods Magnetic resonance imaging (MRI) pattern analysis was used to select patients with the same pattern. Homozygosity mapping and whole exome sequencing (WES) were performed to find the causal gene mutations. Results Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T

U2 - 10.1002/ana.24496

DO - 10.1002/ana.24496

M3 - Article

SN - 0364-5134

VL - 78

SP - 649

EP - 658

JO - Annals of Neurology

JF - Annals of Neurology

IS - 4

ER -

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Abstract

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