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Person

Steffen Syrbe (1976-)

Kinderarzt

Name	Steffen Syrbe
Zeit	1976- (Lebensdaten)
Ort	Jena (Geburtsort) Heidelberg (Wirkungsort) Deutschland
Akademischer Grad bzw. Titel	Prof. Dr. med.
Beruf	Kinderarzt (charakteristischer Beruf)
Beziehung	Klinikum Heidelberg
Weitere Angaben	Facharzt für Kinder- und Jugendmedizin, Schwerpunkte: Neuropädiatrie, EEG-Zertifikat, Epilepsieambulanz/Epilepsiediagnostik, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg
Datensatztyp	Person
GND-Nummer	133581926
Datensatz-ID	133581926
Beteiligt an alle anzeigen Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: a prospective multicenter study in Germany Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders Epilepsy surgery in early infancy : : a retrospective, multicenter study Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants Developmental and epileptic encephalopathies – therapeutic consequences of genetic testing Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy L-serine treatment is associated with improvements in behavior, EEG, and seizure frequency in individuals with GRIN-related disorders due to null variants Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures Epilepsy surgery: late seizure recurrence after initial complete seizure freedom Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder Refining genotypes and phenotypes in KCNA2-related neurological disorders Germline AGO2 mutations impair RNA interference and human neurological development New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients Axenfeld-Rieger Anomaly and Neuropsychiatric Problems—More than Meets the Eye The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study Treatment Responsiveness in KCNT1-Related Epilepsy Interdisziplinäre Konzepte von Pädiatrie und Klinischer Pharmazie zur Optimierung der Antikonvulsivatherapie How do Parents Perceive the Initial Medical Consultation on their Child’s Developmental Disorder? Multigene panel next generation sequencing in a patient with cherry red macular spot : identification of two novelmutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings Administration of anticonvulsive rescue medication in children—discrepancies between parents’ self-reports and limited practical performance Quantitative Morphometrie der Primatenretina

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Katalog der Deutschen Nationalbibliothek

Steffen Syrbe (1976-)

Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: a prospective multicenter study in Germany

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

Epilepsy surgery in early infancy : : a retrospective, multicenter study

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

Developmental and epileptic encephalopathies – therapeutic consequences of genetic testing

Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy

L-serine treatment is associated with improvements in behavior, EEG, and seizure frequency in individuals with GRIN-related disorders due to null variants

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study

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

Epilepsy surgery: late seizure recurrence after initial complete seizure freedom

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

Refining genotypes and phenotypes in KCNA2-related neurological disorders

Germline AGO2 mutations impair RNA interference and human neurological development

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

Axenfeld-Rieger Anomaly and Neuropsychiatric Problems—More than Meets the Eye

The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood

The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

Treatment Responsiveness in KCNT1-Related Epilepsy

Interdisziplinäre Konzepte von Pädiatrie und Klinischer Pharmazie zur Optimierung der Antikonvulsivatherapie

How do Parents Perceive the Initial Medical Consultation on their Child’s Developmental Disorder?

Multigene panel next generation sequencing in a patient with cherry red macular spot : identification of two novelmutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings

Administration of anticonvulsive rescue medication in children—discrepancies between parents’ self-reports and limited practical performance

Quantitative Morphometrie der Primatenretina