WorldCat Identities

Syrbe, Steffen

Overview
Works: 20 works in 27 publications in 2 languages and 47 library holdings
Roles: Other, Author, Contributor
Classifications: R1, 610
Publication Timeline
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Most widely held works by Steffen Syrbe
Quantitative Morphometrie der Primatenretina by Steffen Syrbe( Book )

5 editions published in 2007 in German 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
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study by Afshin Saffari( )

3 editions published in 2019 in English and held by 4 WorldCat member libraries worldwide

Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been used to treat TSC-related manifestations in older children and adults. However, data on their safety and efficacy in infants and young children are scarce. The objective of this study is to assess the utility and safety of mTOR inhibitor treatment in TSC patients under the age of 2)years
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
How do Parents Perceive the Initial Medical Consultation on their Child's Developmental Disorder?( )

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

Treatment Responsiveness in KCNT1-Related Epilepsy by Mark P Fitzgerald( )

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

"Erhöhte Leberwerte" - nicht immer Indikatoren gestörter Leberfunktion( )

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

Neue Entwicklungen in der genetischen Grundlage kortikaler Malformationen by Jan Henje Döring( )

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

Administration of anticonvulsive rescue medication in children--discrepancies between parents' self-reports and limited practical performance by Almuth Kaune( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Genetische epileptische Enzephalopathien des Säuglingsalters by Steffen Syrbe( )

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

Das Bardet-Biedl-Syndrom( )

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

Use of Levetiracetam in Neonates in Clinical Practice: A Retrospective Study at a German University Hospital( )

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

Epileptic Encephalopathies in Childhood: The Role of Genetic Testing( )

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

Seizure disorders and developmental disorders: impact on life of affected families--a structured interview by Ulrike Petra Spindler( )

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

Interdisziplinäre Konzepte von Pädiatrie und Klinischer Pharmazie zur Optimierung der Antikonvulsivatherapie( )

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

Aplasia cutis congenita - eine kurze Darstellung des heterogenen Krankheitsbildes am Beispiel eines Falles( )

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

Zehenspitzengang und Gangunsicherheit als Manifestation einer hereditären sensomotorischen Neuropathie Typ 1A( )

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

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots by Heiko Brennenstuhl( )

1 edition published in 2020 in English and held by 1 WorldCat member library worldwide

Klinische und funktionelle Charakterisierung monogener Entwicklungsstörungen mit Epilepsie und epileptischer Enzephalopathien der Kindheit by Steffen Syrbe( Book )

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

STXBP1 encephalopathy( )

1 edition published in 2016 in English and held by 1 WorldCat member library worldwide

Abstract : Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1 -E) by systematically reviewing newly diagnosed and previously reported patients. Methods: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients. Results: We describe the phenotypic features of 147 patients with STXBP1 -E including 45 previously unreported patients with 33 novel STXBP1 mutations. All patients have intellectual disability (ID), which is mostly severe to profound (88%). Ninety-five percent of patients have epilepsy. While one-third of patients presented with Ohtahara syndrome (21%) or West syndrome (9.5%), the majority has a nonsyndromic early-onset epilepsy and encephalopathy (53%) with epileptic spasms or tonic seizures as main seizure type. We found no correlation between severity of seizures and severity of ID or between mutation type and seizure characteristics or cognitive outcome. Neurologic comorbidities including autistic features and movement disorders are frequent. We also report 2 previously unreported adult patients with prominent extrapyramidal features. Conclusion: De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy. Most patients have severe to profound ID with little correlation among seizure onset, seizure severity, and the degree of ID. Accordingly, we hypothesize that seizure severity and ID present 2 independent dimensions of the STXBP1 -E phenotype. STXBP1 -E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy
 
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Audience level: 0.96 (from 0.88 for The phenot ... to 0.97 for Quantitati ...)

Alternative Names
Steffen Syrbe onderzoeker

Languages
English (14)

German (13)