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Oberlack,\ A.*\ ; Wagner,\ M.
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Genetic variants and disease mechanisms - Lessons from monogenic childhood epilepsies.
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Neuropediatrics, DOI: 10.1055/a-2731-5130 (2025)
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Fearns,\ N.*\ ; Wagner,\ M.\ ; Borggräfe,\ I.*\ ; Kunz,\ M.*\ ; Rémi,\ J.*\ ; Vollmar,\ C.*
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Good outcome of resective epilepsy surgery in a one-year-old child with drug-resistant focal epilepsy with a novel pathogenic \COL4A1\ mutation.
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Neuropediatrics, DOI: 10.1055/a-2236-7066 (2024)
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Gebert,\ J.*\ ; Brunet,\ T.*\ ; Wagner,\ M.\ ; Rath,\ J.*\ ; Aull-Watschinger,\ S.*\ ; Pataraia,\ E.*\ ; Krenn,\ M.*
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A Homozygous \PTRHD1\ missense variant (p.Arg122Gln) in an individual with intellectual disability, generalized epilepsy, and juvenile parkinsonism.
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Neuropediatrics 55, 209-212 (2024)
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Jacob,\ M.*\ ; Brugger,\ M.*\ ; Andres,\ S.*\ ; Wagner,\ M.\ ; Graf,\ E.*\ ; Berutti,\ R.\ ; Tilch,\ E.\ ; Pavlov,\ M.\ ; Mayerhanser,\ K.*\ ; Hoefele,\ J.*\ ; Meitinger,\ T.*\ ; Winkelmann,\ J.\ ; Brunet,\ T.*
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Genome sequencing for cases unsolved by exome sequencing: Identifying a single-exon deletion in \TBCK\ in a case from 30 years ago.
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Neuropediatrics, DOI: 10.1055/s-0044-1782680 (2024)
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Borggraefe,\ I.*\ ; Wagner,\ M.
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Precision therapy in KCNQ2-related epilepsy.
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Neuropediatrics 54, 295-296 (2023)
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Thiels,\ C.*\ ; Lücke,\ T.*\ ; Rothoeft,\ T.*\ ; Lukas,\ C.*\ ; Nguyen,\ H.P.*\ ; von Kleist-Retzow,\ J.C.*\ ; Prokisch,\ H.\ ; Grimmel,\ M.*\ ; Haack,\ T.*\ ; Hoffjan,\ S.*
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ACOX1 gain-of-function variant in two German pediatric patients, in one case mimicking autoimmune inflammatory disease.
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Neuropediatrics, DOI: 10.1055/s-0043-1776013 (2023)
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Švantnerová,\ J.*\ ; Minár,\ M.*\ ; Radová,\ S.*\ ; Kolníková,\ M.*\ ; Vlkovič,\ P.*\ ; Zech,\ M.
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\ASXL3\ de novo variant-related neurodevelopmental disorder presenting as dystonic cerebral palsy.
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Neuropediatrics 53, 361-365 (2022)
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Trieschmann,\ G.*\ ; Wach,\ K.*\ ; Abel,\ M.*\ ; Tilgner,\ E.*\ ; Berweck,\ S.*\ ; Zech,\ M.
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A novel homozygous PDE 10A variant leading to infantile onset hyperkinesia.
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Neuropediatrics 53, 386-387 (2022)
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Bölsterli,\ B.K.*\ ; Boltshauser,\ E.*\ ; Distelmaier,\ F.*\ ; Geis,\ T.*\ ; Klabunde-Cherwon,\ A.*\ ; Kottke,\ R.*\ ; Makowski,\ C.*\ ; Mayr,\ J.A.*\ ; O’Gorman Tuura,\ R.L.*\ ; Prokisch,\ H.\ ; Steinbruecker,\ K.*\ ; Steinfeld,\ R.*\ ; Syrbe,\ S.*\ ; Wagner,\ M.\ ; Ziegler,\ A.*\ ; Wortmann,\ S.*
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Mitochondrial transporter defects: Successful treatment with ketogenic diet therapy
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Vortrag: (2021)
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Schmid,\ S.J.*\ ; Wagner,\ M.\ ; Goetz,\ C.*\ ; Makowski,\ C.*\ ; Freisinger,\ P.*\ ; Berweck,\ S.*\ ; Mall,\ V.*\ ; Burdach,\ S.*\ ; Juenger,\ H.*
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A de novo dominant negative mutation in DNM1L causes sudden onset status epilepticus with subsequent epileptic encephalopathy.
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Neuropediatrics 50, 197-201 (2019)
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Stendel,\ C.*\ ; Wagner,\ M.\ ; Rudolph,\ G.*\ ; Klopstock,\ T.*
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Gillespie\'s syndrome with minor cerebellar involvement and no intellectual disability associated with a novel ITPR1 mutation: Report of a case and literature review.
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Neuropediatrics 50, 382-386 (2019)
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Alhaddad,\ B.*\ ; Schossig,\ A.*\ ; Haack,\ T.B.\ ; Kovács-Nagy,\ R.*\ ; Braunisch,\ M.C.*\ ; Makowski,\ C.*\ ; Senderek,\ J.*\ ; Vill,\ K.*\ ; Müller-Felber,\ W.*\ ; Strom,\ T.M.\ ; Krabichler,\ B.*\ ; Freisinger,\ P.*\ ; Deshpande,\ C.*\ ; Polster,\ T.*\ ; Wolf,\ N.I.*\ ; Desguerre,\ I.*\ ; Wörmann,\ F.*\ ; Rötig,\ A.*\ ; Ahting,\ U.*\ ; Kopajtich,\ R.\ ; Prokisch,\ H.\ ; Meitinger,\ T.\ ; Feichtinger,\ R.G.*\ ; Mayr,\ J.A.*\ ; Jungbluth,\ H.*\ ; Hubmann,\ M.*\ ; Zschocke,\ J.*\ ; Distelmaier,\ F.*\ ; Koch,\ J.*
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PRUNE1 deficiency: Expanding the clinical and genetic spectrum.
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Neuropediatrics 49, 330-338 (2018)
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Kovács-Nagy,\ R.*\ ; Morin,\ G.*\ ; Al Nouri,\ M.*\ ; Brandau,\ O.*\ ; Saadi,\ N.W.*\ ; Nouri,\ M.A.*\ ; van den Broek,\ F.*\ ; Prokisch,\ H.\ ; Mayr,\ J.A.*\ ; Wortmann,\ S.B.
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HTRA2 defect: A recognizable inborn error of metabolism with 3-methylglutaconic aciduria as discriminating feature characterized by neonatal movement disorder and epilepsy-report of 11 patients.
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Neuropediatrics 49, 373-378 (2018)
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Wagner,\ M.\ ; Gusic,\ M.\ ; Günthner,\ R.*\ ; Alhaddad,\ B.*\ ; Kovács-Nagy,\ R.*\ ; Makowski,\ C.*\ ; Baumeister,\ F.A.M.*\ ; Strom,\ T.M.\ ; Meitinger,\ T.\ ; Prokisch,\ H.\ ; Wortmann,\ S.B.
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Biallelic mutations in \SLC1A2\; an additional mode of inheritance for \SLC1A2\-related epilepsy.
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Neuropediatrics 49, 59-62 (2018)
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Westphal,\ D.S.\ ; Riedhammer,\ K.M.*\ ; Kovács-Nagy,\ R.\ ; Meitinger,\ T.\ ; Hoefele,\ J.*\ ; Wagner,\ M.
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A de novo missense variant in\ POU3F2\ identified in a child with global developmental delay.
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Neuropediatrics 49, 401-404 (2018)
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Sequeira,\ S.*\ ; Rodrigues,\ M.*\ ; Jacinto,\ S.*\ ; Wevers,\ R.A.*\ ; Wortmann,\ S.B.
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MEGDEL syndrome: Expanding the phenotype and new mutations.
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Neuropediatrics 48, 382-384 (2017)
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Wortmann,\ S.B.\ ; Mayr,\ J.A.*\ ; Nuoffer,\ J.M.*\ ; Prokisch,\ H.\ ; Sperl,\ W.*
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A guideline for the diagnosis of pediatric mitochondrial disease: The value of muscle and skin biopsies in the genetics era.
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Neuropediatrics 48, 309-314 (2017)
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Jung,\ N.H.*\ ; Brix,\ O.*\ ; Bernius,\ P.*\ ; Schroeder,\ A.S.*\ ; Kluger,\ G.J.*\ ; Beyerlein,\ A.\ ; Weir,\ S.*\ ; von Kries,\ R.*\ ; Narayanan,\ U.G.*\ ; Mall,\ V.*\ ; Berweck,\ S.*
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German translation of the caregiver priorities and child health index of life with disabilities questionnaire: Test-retest reliability and correlation with gross motor function in children with cerebral palsy.
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Neuropediatrics 45, 289-293 (2014)
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Herzer,\ M.\ ; Koch,\ J.*\ ; Prokisch,\ H.\ ; Rodenburg,\ R.*\ ; Rauscher,\ C.*\ ; Radauer,\ W.*\ ; Forstner,\ R.*\ ; Pilz,\ P.*\ ; Rolinski,\ B.*\ ; Freisinger,\ P.*\ ; Mayr,\ J.A.*\ ; Sperl,\ W.*
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Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
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Neuropediatrics 41, 30-34 (2010)
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Baumeister,\ F.A.M.*\ ; Auer,\ D.P.*\ ; Hörtnagel,\ K.\ ; Freisinger,\ P.*\ ; Meitinger,\ T.
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The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome.
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Neuropediatrics 36, 221-222 (2005)
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Bugiani,\ M.*\ ; Moroni,\ I.*\ ; Bizzi,\ A.*\ ; Nardocci,\ N.*\ ; Bettecken,\ T.\ ; Gärtner,\ J.*\ ; Uziel,\ G.*
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Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts.
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Neuropediatrics 34, 211-214 (2003)
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