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  1. Book ; Thesis: Einfluß der Immunsuppression auf die Funktion von Nierentransplantaten

    Muhle, Hiltrud

    Analyse von 105 Fällen des Transplantationszentrums Kiel

    1989  

    Author's details vorgelegt von Hiltrud Muhle
    Size 46 S. : graph. Darst.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Kiel, Univ., Diss., 1989
    HBZ-ID HT003788344
    Database Catalogue ZB MED Medicine, Health

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  2. Book ; Online ; Thesis: Epilepsieverläufe bei neurokutanen Syndromen unter Berücksichtigung von Phänotyp- und Genotyp-Korrelation

    Rademacher, Annika [Verfasser] / Muhle, Hiltrud [Akademischer Betreuer] / Wasner, Gunnar [Gutachter]

    2020  

    Author's details Annika Verena Rademacher ; Gutachter: Gunnar Wasner ; Betreuer: Hiltrud Muhle
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language German
    Publisher Universitätsbibliothek Kiel
    Publishing place Kiel
    Document type Book ; Online ; Thesis
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  3. Book ; Online ; Thesis: Expressionsprofile proinflammatorischer und proapoptotischer Mediatoren beim sekundären Tethered Cord nach operativer Myelomeningozelendeckung

    Drucks, Bea Verfasser] / [Knerlich-Lukoschus, Friederike Friedel [Akademischer Betreuer] / Muhle, Hiltrud [Gutachter]

    2021  

    Author's details Bea Drucks ; Gutachter: Hiltrud Muhle ; Betreuer: Friederike Knerlich-Lukoschus
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language German
    Publisher Universitätsbibliothek Kiel
    Publishing place Kiel
    Document type Book ; Online ; Thesis
    Database Digital theses on the web

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  4. Book ; Online ; Thesis: Evaluation von Biomarkern für eine zerebrale Zellschädigung nach kardiochirurgischen Eingriffen unter Einsatz der Herzlungenmaschine im Säuglingsalter - Einfluss der zerebralen Gewebeoxygenierung

    Kissner, Lydia Verfasser] / [Hansen, Jan Hinnerk [Akademischer Betreuer] / Muhle, Hiltrud [Gutachter]

    2020  

    Author's details Lydia Kissner ; Gutachter: Hiltrud Muhle ; Betreuer: Jan Hinnerk Hansen
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language German
    Publisher Universitätsbibliothek Kiel
    Publishing place Kiel
    Document type Book ; Online ; Thesis
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  5. Article ; Online: L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.

    Krey, Ilona / von Spiczak, Sarah / Johannesen, Kathrine M / Hikel, Christiane / Kurlemann, Gerhard / Muhle, Hiltrud / Beysen, Diane / Dietel, Tobias / Møller, Rikke S / Lemke, Johannes R / Syrbe, Steffen

    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

    2022  Volume 19, Issue 1, Page(s) 334–341

    Abstract: Pathogenic missense variants in GRIN2A and GRIN2B may result in gain or loss of function (GoF/LoF) of the N-methyl-D-aspartate receptor (NMDAR). This observation gave rise to the hypothesis of successfully treating GRIN-related disorders due to LoF ... ...

    Abstract Pathogenic missense variants in GRIN2A and GRIN2B may result in gain or loss of function (GoF/LoF) of the N-methyl-D-aspartate receptor (NMDAR). This observation gave rise to the hypothesis of successfully treating GRIN-related disorders due to LoF variants with co-agonists of the NMDAR. In this respect, we describe a retrospectively collected series of ten individuals with GRIN2A- or GRIN2B-related disorders who were treated with L-serine, each within an independent n-of-1 trial. Our cohort comprises one individual with a LoF missense variant with clinical improvements confirming the above hypothesis and replicating a previous n-of-1 trial. A second individual with a GoF missense variant was erroneously treated with L-serine and experienced immediate temporary behavioral deterioration further supporting the supposed functional pathomechanism. Eight additional individuals with null variants (that had been interpreted as loss-of-function variants despite not being missense) again showed clinical improvements. Among all nine individuals with LoF missense or null variants, L-serine treatment was associated with improvements in behavior in eight (89%), in development in four (44%), and/or in EEG or seizure frequency in four (44%). None of these nine individuals experienced side effects or adverse findings in the context of L-serine treatment. In summary, we describe the first evidence that L-serine treatment may not only be associated with clinical improvements in GRIN-related disorders due to LoF missense but particularly also null variants.
    MeSH term(s) Electroencephalography ; Humans ; Receptors, N-Methyl-D-Aspartate/genetics ; Retrospective Studies ; Seizures/drug therapy ; Seizures/genetics ; Serine/genetics
    Chemical Substances Receptors, N-Methyl-D-Aspartate ; Serine (452VLY9402)
    Language English
    Publishing date 2022-01-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2316693-9
    ISSN 1878-7479 ; 1933-7213
    ISSN (online) 1878-7479
    ISSN 1933-7213
    DOI 10.1007/s13311-021-01173-9
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  6. Article ; Online: Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.

    Rademacher, Annika / Schwarz, Niklas / Seiffert, Simone / Pendziwiat, Manuela / Rohr, Axel / van Baalen, Andreas / Helbig, Ingo / Weber, Yvonne / Muhle, Hiltrud

    Neuropediatrics

    2020  Volume 51, Issue 5, Page(s) 368–372

    Abstract: Patients with neurofibromatosis type 1 (NF1) have an increased risk for West syndrome (WS), but the underlying mechanisms linking NF1 and WS are unknown. In contrast to other neurocutaneous syndromes, intracerebral abnormalities explaining the course of ... ...

    Abstract Patients with neurofibromatosis type 1 (NF1) have an increased risk for West syndrome (WS), but the underlying mechanisms linking NF1 and WS are unknown. In contrast to other neurocutaneous syndromes, intracerebral abnormalities explaining the course of infantile spasms (IS) are often absent and the seizure outcome is usually favorable. Several studies have investigated a potential genotype-phenotype correlation between
    MeSH term(s) Comorbidity ; Humans ; Infant ; Neurofibromatosis 1/genetics ; Shaw Potassium Channels/genetics ; Spasms, Infantile/genetics ; Whole Exome Sequencing
    Chemical Substances KCNC2 protein, human ; Shaw Potassium Channels
    Language English
    Publishing date 2020-05-11
    Publishing country Germany
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0040-1710524
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  7. Article ; Online: Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.

    Holze, Niklas / Baalen, Andreas van / Stephani, Ulrich / Helbig, Ingo / Muhle, Hiltrud

    Neuropediatrics

    2018  Volume 49, Issue 5, Page(s) 342–346

    Abstract: Mutations in ... ...

    Abstract Mutations in the
    MeSH term(s) Age of Onset ; Apnea/genetics ; Child, Preschool ; Developmental Disabilities/genetics ; Epilepsy/genetics ; Female ; Humans ; Sodium-Potassium-Exchanging ATPase/genetics
    Chemical Substances ATP1A3 protein, human ; Sodium-Potassium-Exchanging ATPase (EC 3.6.3.9)
    Language English
    Publishing date 2018-05-25
    Publishing country Germany
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0038-1653978
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  8. Article: Efficacy, Tolerability, and Retention of Antiseizure Medications in

    Döring, Jan H / Saffari, Afshin / Bast, Thomas / Brockmann, Knut / Ehrhardt, Laura / Fazeli, Walid / Janzarik, Wibke G / Klabunde-Cherwon, Annick / Kluger, Gerhard / Muhle, Hiltrud / Pendziwiat, Manuela / Møller, Rikke S / Platzer, Konrad / Santos, Joana Larupa / Schröter, Julian / Hoffmann, Georg F / Kölker, Stefan / Syrbe, Steffen

    Neurology. Genetics

    2022  Volume 8, Issue 5, Page(s) e200020

    Abstract: Background and objectives: Pathogenic variants in : Methods: A multicenter, retrospective, cross-sectional cohort study was conducted according to the Strengthening the Reporting of Observational Studies in Epidemiology criteria. Inclusion criteria ... ...

    Abstract Background and objectives: Pathogenic variants in
    Methods: A multicenter, retrospective, cross-sectional cohort study was conducted according to the Strengthening the Reporting of Observational Studies in Epidemiology criteria. Inclusion criteria were occurrence of infantile seizures and genetic diagnosis of likely pathogenic/pathogenic
    Results: Treatment response data from 52 individuals with
    Discussion: In conclusion, a favorable effect of most ASMs, especially sodium channel blockers such as carbamezepine and OXC, was observed, whereas the efficacy and the retention rate of LEV was lower in
    Classification of evidence: This study provides Class IV evidence that in individuals with
    Language English
    Publishing date 2022-09-28
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000200020
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  9. Article ; Online: Efficacy, tolerability, and retention of fenfluramine for the treatment of seizures in patients with Dravet syndrome: Compassionate use program in Germany.

    Strzelczyk, Adam / Pringsheim, Milka / Mayer, Thomas / Polster, Tilman / Klotz, Kerstin A / Muhle, Hiltrud / Alber, Michael / Trollmann, Regina / Spors, Hartwig / Kluger, Gerhard / Kurlemann, Gerhard / Schubert-Bast, Susanne

    Epilepsia

    2021  Volume 62, Issue 10, Page(s) 2518–2527

    Abstract: Objective: Dravet syndrome (DS) is a rare but severe drug-resistant epilepsy. Before the approval of fenfluramine (FFA) for the treatment of seizures in DS, patients in Germany could receive treatment under a compassionate use program (CUP).: Methods!# ...

    Abstract Objective: Dravet syndrome (DS) is a rare but severe drug-resistant epilepsy. Before the approval of fenfluramine (FFA) for the treatment of seizures in DS, patients in Germany could receive treatment under a compassionate use program (CUP).
    Methods: We conducted a multicenter, retrospective, observational study to describe the efficacy, tolerability, and retention of FFA within the CUP. Patients received add-on therapy with oral FFA gradually titrated to a target dose between .13 and .7 mg/kg/day.
    Results: Overall, 78 patients with DS (median age = 8.0 years, range = 2.1-46.0; 53% female, median concomitant antiseizure medications [ASMs] = 3) were treated with FFA for a median duration of 255.5 days (range = 31-572). Responder rates (a ≥50% reduction; n = 78) and seizure-freedom rates at 3 months were 68% and 14% for total seizures, respectively, and 67% and 23% for generalized tonic-clonic seizures. Responder rates were consistent at 6 and 12 months (n = 66 and n = 43, respectively). Median seizure days per month significantly decreased from 10.0 (range = .5-30) to 3.0 (range = 0-30) in the 3-month period before and after FFA treatment (p < .001). Significantly fewer patients reported at least one episode of status epilepticus (28% vs. 14% patients before and after FFA initiation, p = .005). During FFA treatment, 35 (45%) patients were able to discontinue a concomitant ASM. At the last follow-up date, 66 (85%) patients remained on treatment with FFA. The most common adverse events were somnolence (36%), decreased appetite (22%), and ataxia (8%). Forty-eight (62%) patients were reported as having a meaningful global clinical improvement.
    Significance: In a large cohort of patients, FFA demonstrated efficacy across a range of outcomes including clinically significant reductions in convulsive seizures, and was well tolerated, providing valuable information for real-world practice.
    MeSH term(s) Adolescent ; Adult ; Anticonvulsants/adverse effects ; Child ; Child, Preschool ; Compassionate Use Trials ; Epilepsies, Myoclonic/chemically induced ; Epilepsies, Myoclonic/complications ; Epilepsies, Myoclonic/drug therapy ; Epileptic Syndromes ; Female ; Fenfluramine/adverse effects ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Seizures/complications ; Spasms, Infantile ; Treatment Outcome ; Young Adult
    Chemical Substances Anticonvulsants ; Fenfluramine (2DS058H2CF)
    Language English
    Publishing date 2021-08-10
    Publishing country United States
    Document type Journal Article ; Multicenter Study ; Observational Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.17034
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    Zs.A 517: Show issues Location:
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    Zs.MO 475: Show issues

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  10. Article ; Online: KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

    Cioclu, Maria Cristina / Mosca, Ilaria / Ambrosino, Paolo / Puzo, Deborah / Bayat, Allan / Wortmann, Saskia B / Koch, Johannes / Strehlow, Vincent / Shirai, Kentaro / Matsumoto, Naomichi / Sanders, Stephan J / Michaud, Vincent / Legendre, Marine / Riva, Antonella / Striano, Pasquale / Muhle, Hiltrud / Pendziwiat, Manuela / Lesca, Gaetan / Mangano, Giuseppe Donato /
    Nardello, Rosaria / Lemke, Johannes R / Møller, Rikke S / Soldovieri, Maria Virginia / Rubboli, Guido / Taglialatela, Maurizio

    Annals of neurology

    2023  Volume 94, Issue 2, Page(s) 332–349

    Abstract: Objective: Pathogenic variants in KCNT2 are rare causes of developmental epileptic encephalopathy (DEE). We herein describe the phenotypic and genetic features of patients with KCNT2-related DEE, and the in vitro functional and pharmacological ... ...

    Abstract Objective: Pathogenic variants in KCNT2 are rare causes of developmental epileptic encephalopathy (DEE). We herein describe the phenotypic and genetic features of patients with KCNT2-related DEE, and the in vitro functional and pharmacological properties of KCNT2 channels carrying 14 novel or previously untested variants.
    Methods: Twenty-five patients harboring KCNT2 variants were investigated: 12 were identified through an international collaborative network, 13 were retrieved from the literature. Clinical data were collected and included in a standardized phenotyping sheet. Novel variants were detected using exome sequencing and classified using ACMG criteria. Functional and pharmacological studies were performed by whole-cell electrophysiology in HEK-293 and SH-SY5Y cells.
    Results: The phenotypic spectrum encompassed: (a) intellectual disability/developmental delay (21/22 individuals with available information), ranging from mild to severe/profound; (b) epilepsy (15/25); (c) neurological impairment, with altered muscle tone (14/22); (d) dysmorphisms (13/20). Nineteen pathogenic KCNT2 variants were found (9 new, 10 reported previously): 16 missense, 1 in-frame deletion of a single amino acid, 1 nonsense, and 1 frameshift. Among tested variants, 8 showed gain-of-function (GoF), and 6 loss-of-function (LoF) features when expressed heterologously in vitro. Quinidine and fluoxetine blocked all GoF variants, whereas loxapine and riluzole activated some LoF variants while blocking others.
    Interpretation: We expanded the phenotypic and genotypic spectrum of KCNT2-related disorders, highlighting novel genotype-phenotype associations. Pathogenic KCNT2 variants cause GoF or LoF in vitro phenotypes, and each shows a unique pharmacological profile, suggesting the need for in vitro functional and pharmacological investigation to enable targeted therapies based on the molecular phenotype. ANN NEUROL 2023;94:332-349.
    MeSH term(s) Humans ; HEK293 Cells ; Neuroblastoma ; Phenotype ; Genotype ; Intellectual Disability/drug therapy ; Intellectual Disability/genetics ; Potassium Channels, Sodium-Activated/genetics
    Chemical Substances KCNT2 protein, human ; Potassium Channels, Sodium-Activated
    Language English
    Publishing date 2023-05-22
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26662
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