Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: Frontiers in genetics(12), S.663643-

Event: Veröffentlichung

(where): Kiel

(who): Universitätsbibliothek Kiel

(when): 2021

Creator: Bayat, Allan
Pendziwiat, Manuela
Obersztyn, Ewa
Goldenberg, Paula
Zacher, Pia
Driedger, Jan Henje
Syrbe, Steffen
Begtrup, Amber
Borovikov, Artem
Sharkov, Artem
Karasińska, Aneta
Giżewska, Maria
Mitchell, Wendy
Morava-Kozicz, Eva
Møller, Rikke S.
Rubboli, Guido

DOI: 10.3389/fgene.2021.663643

URN: urn:nbn:de:gbv:8:3-2021-00697-8

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 25.03.2025, 1:51 PM CET

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Associated

Bayat, Allan
Pendziwiat, Manuela
Obersztyn, Ewa
Goldenberg, Paula
Zacher, Pia
Driedger, Jan Henje
Syrbe, Steffen
Begtrup, Amber
Borovikov, Artem
Sharkov, Artem
Karasińska, Aneta
Giżewska, Maria
Mitchell, Wendy
Morava-Kozicz, Eva
Møller, Rikke S.
Rubboli, Guido
Universitätsbibliothek Kiel

Time of origin

2021

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ARPC5 deficiency leads to severe early onset systemic inflammation and mortality

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Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

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Other Objects (12)

Lipoprotein receptor loss in forebrain radial glia results in neurological deficits and severe seizures

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BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

ARPC5 deficiency leads to severe early onset systemic inflammation and mortality

Childhood seizures : 13 tables

Severe plasma prekallikrein deficiency: clinical characteristics, novel KLKB1 mutations, and estimated prevalence

Severe plasma prekallikrein deficiency : clinical characteristics, novel KLKB1 mutations, and estimated prevalence

Seizures : Medical Causes and Management

Iron deficiency caused by intestinal iron loss - novel candidate genes for severe anemia

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

Lipoprotein receptor loss in forebrain radial glia results in neurological deficits and severe seizures

Clinical deep phenotyping from cognition to brain and retina in severe mental illnesses

Searches, Seizures, Interrogations

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

ARPC5 deficiency leads to severe early onset systemic inflammation and mortality

Childhood seizures : 13 tables

Severe plasma prekallikrein deficiency: clinical characteristics, novel KLKB1 mutations, and estimated prevalence

Severe plasma prekallikrein deficiency : clinical characteristics, novel KLKB1 mutations, and estimated prevalence

Seizures : Medical Causes and Management

Iron deficiency caused by intestinal iron loss - novel candidate genes for severe anemia

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

Lipoprotein receptor loss in forebrain radial glia results in neurological deficits and severe seizures

Clinical deep phenotyping from cognition to brain and retina in severe mental illnesses

Searches, Seizures, Interrogations

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

ARPC5 deficiency leads to severe early onset systemic inflammation and mortality

Childhood seizures : 13 tables

Severe plasma prekallikrein deficiency: clinical characteristics, novel KLKB1 mutations, and estimated prevalence

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Seizures : Medical Causes and Management

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Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

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