WorldCat Identities

Bast, Thomas

Overview
Works: 30 works in 35 publications in 2 languages and 148 library holdings
Genres: Handbooks and manuals 
Roles: Contributor, Author, Other
Classifications: SB435.52.P4, 616.8047547
Publication Timeline
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Most widely held works by Thomas Bast
EEG 8 Tabellen by Alois Ebner( Book )

3 editions published between 2006 and 2011 in German and held by 80 WorldCat member libraries worldwide

Volumetrische und densitometrische CT-Untersuchungen der Oberbauchorgane bei Thorotrastpatienten by Thomas Bast( Book )

2 editions published in 1994 in German and held by 6 WorldCat member libraries worldwide

A guide for municipal tree commissions( Book )

1 edition published in 1996 in English and held by 6 WorldCat member libraries worldwide

The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood by Jan Henje Döring( )

2 editions published in 2020 in English and held by 5 WorldCat member libraries worldwide

Abstract: Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed at delineating the broad clinical spectrum of PRRT2-associated phenotypes in these children and their relatives. Only a few recent larger cohort studies are on record and findings from single reports were not confirmed so far. We collected detailed genetic and phenotypic data of 40 previously unreported patients from 36 families. All patients had benign infantile epilepsy and harbored pathogenic variants in PRRT2 (core cohort). Clinical data of 62 family members were included, comprising a cohort of 102 individuals (extended cohort) with PRRT2-associated neurological disease. Additional phenotypes in the cohort of patients with benign sporadic and familial infantile epilepsy consist of movement disorders with paroxysmal kinesigenic dyskinesia in six patients, infantile-onset movement disorders in 2 of 40 individuals, and episodic ataxia after mild head trauma in one girl with bi-allelic variants in PRRT2. The same girl displayed a focal cortical dysplasia upon brain imaging. Familial hemiplegic migraine and migraine with aura were reported in nine families. A single individual developed epilepsy with continuous spikes and waves during sleep. In addition to known variants, we report the novel variant c.843G>T, p.(Trp281Cys) that co-segregated with benign infantile epilepsy and migraine in one family. Our study highlights the variability of clinical presentations of patients harboring pathogenic PRRT2 variants and expands the associated phenotypic spectrum
Erster epileptischer Anfall und Epilepsien im Erwachsenenalter( )

2 editions published in 2017 in German and held by 4 WorldCat member libraries worldwide

Refining genotypes and phenotypes in KCNA2-related neurological disorders by Jan-Henje Döring( )

1 edition published in 2021 in English and held by 3 WorldCat member libraries worldwide

Abstract: Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopathy, intellectual disability, and movement disorders resulting from cerebellar dysfunction. In addition, individuals with a milder course of epilepsy, complicated hereditary spastic paraplegia, and episodic ataxia have been reported. By analyzing phenotypic, functional, and genetic data from published reports and novel cases, we refine and further delineate phenotypic as well as functional subgroups of KCNA2-associated disorders. Carriers of variants, leading to complex and mixed channel dysfunction that are associated with a gain- and loss-of-potassium conductance, more often show early developmental abnormalities and an earlier onset of epilepsy compared to individuals with variants resulting in loss- or gain-of-function. We describe seven additional individuals harboring three known and the novel KCNA2 variants p.(Pro407Ala) and p.(Tyr417Cys). The location of variants reported here highlights the importance of the proline(405)-valine(406)-proline(407) (PVP) motif in transmembrane domain S6 as a mutational hotspot. A novel case of self-limited infantile seizures suggests a continuous clinical spectrum of KCNA2-related disorders. Our study provides further insights into the clinical spectrum, genotype-phenotype correlation, variability, and predicted functional impact of KCNA2 variants
Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

Notfälle bei behinderten Kindern( )

1 edition published in 2009 in German and held by 2 WorldCat member libraries worldwide

Cannabidiol Interacts Significantly with Everolimus--Report of a Patient with Tuberous Sclerosis Complex( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

Outcome after epilepsy surgery in children with MRI-negative non-idiopathic focal epilepsies by Thomas Bast( )

1 edition published in 2013 in English and held by 2 WorldCat member libraries worldwide

Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions by Stéphane Auvin( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

Medikamentöse Therapie fokaler Anfälle bei Kindern by Thomas Bast( )

1 edition published in 2018 in German and held by 2 WorldCat member libraries worldwide

Klinische Charakteristika, Ressourcenverbrauch, Lebensqualität und Versorgungssituation beim Dravet-Syndrom in Deutschland by Malin Kalski( )

1 edition published in 2019 in German and held by 2 WorldCat member libraries worldwide

Effectiveness and Tolerability of Perampanel in Children and Adolescents with Refractory Epilepsies: First Experiences( )

1 edition published in 2015 in English and held by 2 WorldCat member libraries worldwide

Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers : a prospective, multicenter study from Germany by Adam Strzelczyk( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

Zerebrale Anfälle und Epilepsien im Kindesalter( )

1 edition published in 2014 in German and held by 2 WorldCat member libraries worldwide

Epilepsie im Kindesalter: Wann kann die antiepileptische Therapie abgesetzt werden? Eine Meinungsäußerung des Königsteiner Arbeitskreises by R. Köhling, I. Krägeloh-Mann, G. Krämer, B. Pohlmann-Eden, D. Rating, B. Schmitz, B. Steinhoff, H. G. Wieser (Vorsitz 2007), O.W. Witte M. Wolff ist kein Mitglied des Königsteiner Arbeitskreises weitere Mitglieder des Königsteiner Arbeitskreises für Epilepsie: C. Baumgartner( )

1 edition published in 2007 in German and held by 2 WorldCat member libraries worldwide

Diagnostik und Therapie der Epilepsien im Kindesalter by Susanne Schubert-Bast( )

1 edition published in 2019 in German and held by 2 WorldCat member libraries worldwide

Aufgaben und Struktur moderner Epilepsiezentren in Deutschland( )

1 edition published in 2017 in German and held by 2 WorldCat member libraries worldwide

 
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Audience Level
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Audience Level
1
  Kids General Special  
Audience level: 0.92 (from 0.70 for A guide fo ... to 0.97 for Erster epi ...)

Alternative Names
Bast, Th

Bast, Th. 1965-

Languages
German (15)

English (10)