WorldCat Identities

Döring, Jan-Henje 1983-

Overview
Works: 5 works in 8 publications in 2 languages and 16 library holdings
Roles: Author
Publication Timeline
.
Most widely held works by Jan-Henje Döring
Komplementärmedizin und alternative Heilmethoden bei Kindern mit Epilepsieerkrankungen eine Evaluation elterlicher Komedikation by Jan-Henje Döring( Book )

3 editions published in 2013 in German and held by 5 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
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
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

Thirty years of orphan drug legislation and the development of drugs to treat rare seizure conditions a cross sectional analysis by Jan-Henje Döring( )

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

 
Audience Level
0
Audience Level
1
  Kids General Special  
Audience level: 0.95 (from 0.91 for Thirty yea ... to 0.97 for Neue Entwi ...)

Alternative Names
Döring, Jan H. 1983-

Döring, Jan Henje 1983-

Languages