IonNeurONet - Network for neurological and ophthalmological Ion Channel Disorders
The goal of IonNeurONet is to create a clinical and research network for neurological and ophthalmological Ion Channel disorders. Neurologic and neuropediatric centers across Germany will participate in a network for the following most important ion channel diseases: non dystrophic myotonias and periodic paralyses, hemiplegic Migräne, episodic ataxias, specific inherited seizure disorders, paroxysmal movement disorders, specific mendelian pain disorders, and specific types of retinopathies.
A fast and efficient diagnostic genetic tool based on next generation sequencing will be provided and connected to research projects for whole exome sequencing. Other research is focussed on functional physiological studies in heterologous expression systems, muscle and nerve cells. We will provide platforms for genetic and bioinformatic analyses, automated and deep functional studies, channel trafficking, and induced pluripotent stem cells. Our consortium will provide nation-wide care for these rare and often unrecognized disabling disorders. The planned collaboration of clinicians, geneticists and physiologists will be ideal to identify novel disease mechanisms as a basis for future therapies.
Projects- Koordination und Management (Prof. H. Lerche und Dr. H. Graessner, Tübingen)
- Pathogenese der hypokaliämischen periodischen Paralysen (HypoPP) (PD Dr. K. Jurkat-Rott und Prof. F. Lehmann-Horn, Ulm)
- Genidentifizierung und Charakterisierung für hemiplegische Migräne (Prof. C. Kubisch, Ulm)
- Pathophysiologie der neuronalen KV7.2 Kanalopathien in benignen familiären neonatalen Epilepsien (BFNS) und epileptischen Enzephalopathien (Dr. S. Maljevic, Tübingen)
- Mechanismen der gestörten Oberflächenexpression und Entwicklung von Bioassays zur Verbesserung von Mutationsträgern mit transportdefekten retinalen Kanalopathien (Prof. B. Wissinger, Tübingen)
- Genetische Diagnostik und Exom-Sequenzierung in Ionenkanalerkrankungen (Dr. S. Biskup,CeGaT GmbH)
Institut für Medizinische Genetik und Angewandte Genomik
Universität Tübingen
Calwerstr. 7
72076 Tübingen
Tel.: +49 7071 29-72285
E-Mail: Birte.zurek@med.uni-tuebingen.de
Website: www.ionneuronet.de/
Projektleitung:
Holger Lerche, Professor Dr. med., Ärztlicher Direktor
Abteilung Neurologie mit Schwerpunkt Epileptologie,
Hertie-Institut für klinische Hirnforschung
Universität Tübingen
Hoppe-Seyler-Straße 3
72076 Tübingen
Tel.: +49-7071-29-80442 (-80466)
Fax: +49-7071-29-4488
E-Mail: holger.lerche@uni-tuebingen.de
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1. December 2015 (IonNeurONet)
Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A MutationAnn Neurol. 2016 Mar; 79(3):428-36.
Elena Gardella, MD, PhD, Felicitas Becker, MD, Rikke S. Møller, PhD, Julian Schubert, PhD, Johannes R. Lemke, MD, Line H. G. Larsen, MSc, Hans Eiberg, PhD, Michael Nothnagel, PhD, Holger Thiele, MD, Janine Altmüller, PhD, Steffen Syrbe, MD, Andreas Merkenschlager, MD, Thomas Bast, MD, Bernhard Steinhoff, MD, Peter Nürnberg, MD, Yuan Mang, MSc, Louise Bakke Möller, MSc, Pia Gellert, MD, Sarah E. Heron, PhD, Leanne M. Dibbens, PhD, Sarah Weckhuysen, MD, PhD, Hans Atli Dahl, PhD, Saskia Biskup, MD, PhD, Niels Tommerup, PhD, Helle Hjalgrim, MD, PhD, Holger Lerche, MD, Sándor Beniczky, MD, PhD, and Yvonne G. Weber, MD
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2. November 2014 (IonNeurONet)
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesNat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H.
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2. November 2014 (IonNeurONet)
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesNat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2.
Schubert, Siekierska, Langlois, May, Huneau, Becker, Muhle, Suls, Lemke, de Kovel, Thiele, Konrad, Kawalia, Toliat, Sander, Rüschendorf, Caliebe, Nagel, Kohl, Kecskés, Jacmin, Hardies, Weckhuysen, Riesch, Dorn, Brilstra, Baulac, Møller, Hjalgrim, Koeleman; EuroEPINOMICS RES Consortium, Jurkat-Rott, Lehman-Horn, Roach, Glusman, Hood, Galas, Martin, de Witte, Biskup, De Jonghe, Helbig, Balling, Nürnberg, Crawford, Esguerra, Weber, Lerche
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14. September 2014 (IonNeurONet)
Potassium channel genes and benign familial neonatal epilepsyProg Brain Res. 2014;213:17-53. doi: 10.1016/B978-0-444-63326-2.00002-8. PMID: 25194482
Maljevic S, Lerche H. P
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14. September 2014 (IonNeurONet)
Towards the automated generation of expert profiles for rare diseases through bibliometric analysisStud Health Technol Inform. 2014;198:47-54. PMID: 24825684
Pflugrad A, Jurkat-Rott K, Lehmann-Horn F, Bernauer J.
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18. February 2014 (IonNeurONet)
NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recoveryBrain. 2014 Feb 18. PMID: 24549961
Groome JR, Lehmann-Horn F, Fan C, Wolf M, Winston V, Merlini L, Jurkat-Rott K.
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8. January 2014 (IonNeurONet)
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation.Fan C, Lehmann-Horn F, Weber MA, Bednarz M, Groome JR, Jonsson MK, Jurkat-Rott K.
Brain. 2013 Nov 15. [Epub ahead of print]
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1. November 2013 (IonNeurONet)
Hypokalemic periodic paralysis induced by thymic hyperplasia and relieved by thymectomy.JAMA Neurol. 2013 Nov 1;70(11):1436‐9.
Yang R, Jurkat‐Rott K, Cao J, Wang G, Seelig HP, Yang C, Liu G, Pan L, Zheng
H, Lehmann‐Horn F. -
24. October 2013 (IonNeurONet)
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeAm J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24. PMID: 24207121
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium.
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1. October 2013 (IonNeurONet)
Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.Pediatr Neurol.2013 Oct;49(4):286‐8.
Sánchez‐Albisua I, Schöning M, Jurkat‐Rott K, Lerche H.
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1. October 2013 (IonNeurONet)
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.J Neurol. 2013 Oct;260(10):2606‐13.
Charles G, Zheng C, Lehmann‐Horn F, Jurkat‐Rott K, Levitt J.
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22. July 2013 (IonNeurONet)
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.Seizure. 2013 Jul;22(6):483-6. doi: 10.1016/j.seizure.2013.03.003. Epub 2013 Apr 16. PMID: 23601850
Zsurka G, Becker F, Heinen M, Gdynia HJ, Lerche H, Kunz WS, Weber YG.
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12. June 2013 (IonNeurONet)
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+ current.Epilepsia. 2013 Jun 12. doi: 10.1111/epi.12241. [Epub ahead of print] PMID: 23758435
Lauxmann S, Boutry-Kryza N, Rivier C, Mueller S, Hedrich UB, Maljevic S, Szepetowski P, Lerche H, Lesca G.
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4. June 2013 (IonNeurONet)
Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy.Am J Hum Genet. 2013 Jun 4. doi:pii: S0002-9297(13)00218-8. 10.1016/j.ajhg.2013.05.005. [Epub ahead of print] PMID: 23746546
Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM; European Retinal Disease Consortium, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI.
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1. June 2013 (IonNeurONet)
A conserved threonine in the S1-S2 loop of KV7.2 and K V7.3 channels regulates voltage-dependent activation.Pflugers Arch. 2013 Jun;465(6):797-804. doi: 10.1007/s00424-012-1184-x. Epub 2012 Dec 28. PMID: 23271449
Füll Y, Seebohm G, Lerche H, Maljevic S.
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29. May 2013 (IonNeurONet)
Cone Dystrophy with Supernormal Rod Response: Novel KCNV2 Mutations in an Underdiagnosed Phenotype.Ophthalmology. 2013 May 29. doi:pii: S0161-6420(13)00316-3. 10.1016/j.ophtha.2013.03.031. [Epub ahead of print] PMID: 23725738
Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E.
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3. May 2013 (IonNeurONet)
In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita.Acta Anaesthesiol Scand. 2013 May 3. doi: 10.1111/aas.12126. [Epub ahead of print] PMID: 23639175
Hoppe K, Lehmann-Horn F, Chaiklieng S, Jurkat-Rott K, Adolph O, Klingler W.
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1. May 2013 (IonNeurONet)
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.J Neurol. 2013 May;260(5):1234-44. doi: 10.1007/s00415-012-6777-y. Epub 2013 Jan 9. PMID: 23299620 [PubMed – in process]
Becker F, Schubert J, Striano P, Anttonen AK, Liukkonen E, Gaily E, Gerloff C, Müller S, Heußinger N, Kellinghaus C, Robbiano A, Polvi A, Zittel S, von Oertzen TJ, Rostasy K, Schöls L, Warner T, Münchau A, Lehesjoki AE, Zara F, Lerche H, Weber YG.
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1. May 2013 (IonNeurONet)
Regulation of ClC-2 gating by intracellular ATP.Pflugers Arch. 2013 May 1. [Epub ahead of print] PMID: 23632988
Stölting G, Teodorescu G, Begemann B, Schubert J, Nabbout R, Toliat MR, Sander T, Nürnberg P, Lerche H, Fahlke C.
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26. April 2013 (IonNeurONet)
A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation.Audiol Neurootol. 2013;18(3):192-9. doi: 10.1159/000350246. Epub 2013 Apr 26. PMID: 23635807
Volk AE, Lang-Roth R, Yigit G, Borck G, Nuernberg G, Rosenkranz S, Nuernberg P, Kubisch C, Beutner D.
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17. April 2013 (IonNeurONet)
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.Eur J Hum Genet. 2013 Apr 17. doi: 10.1038/ejhg.2013.72. [Epub ahead of print]PMID: 23591405
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J.
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18. March 2013 (IonNeurONet)
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.BMJ Open. 2013 Mar 18;3(3). doi:pii: e001917. 10.1136/bmjopen-2012-001917. Print 2013. PMID: 23512835
Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M, Bartsch O, Steinberger D.
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1. January 2013 (IonNeurONet)
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.PLoS One. 2013;8(1):e51622. doi: 10.1371/journal.pone.0051622. Epub 2013 Jan 7.PMID: 23308101
Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM.
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1. January 2013 (IonNeurONet)
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.Ophthalmic Epidemiol. 2013;20(1):13-25. doi: 10.3109/09286586.2012.737890. PMID: 23350551
Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP.
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18. December 2012 (IonNeurONet)
Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Lossvon Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C. A. Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18. PubMed PMID: 23084290; PubMed Central PMCID: PMC3487123.
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7. December 2012 (IonNeurONet)
Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability SyndromeBasel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Am J Hum Genet. 2012 Dec 7;91(6):998-1010
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1. December 2012 (IonNeurONet)
Membrane excitability and excitation-contraction uncoupling in muscle fatigue.Neuromuscul Disord. 2012 Dec;22 Suppl 3:S162-7. doi: 10.1016/j.nmd.2012.10.004.PMID: 23182632
Fauler M, Jurkat-Rott K, Lehmann-Horn F.
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1. December 2012 (IonNeurONet)
The role of fibrosis in Duchenne muscular dystrophy.Acta Myol. 2012 Dec;31(3):184-95. PMID: 23620650
Klingler W, Jurkat-Rott K, Lehmann-Horn F, Schleip R.
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11. November 2012 (IonNeurONet)
Potassium channels: a review of broadening therapeutic possibilities for neurological diseasesMaljevic S, Lerche H. J Neurol. 2012 Nov 11. [Epub ahead of print] PubMed PMID: 23142946.
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1. November 2012 (IonNeurONet)
Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl SyndromeEstrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ. Arch Ophthalmol. 2012 Nov 1;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434. PubMed PMID: 23143442.
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31. October 2012 (IonNeurONet)
DYT7 gene locus for cervical dystonia on chromosome 18p is questionableWinter P, Kamm C, Biskup S, Köhler A, Leube B, Auburger G, Gasser T, Benecke R, Müller U. Mov Disord. 2012 Oct 31. doi: 10.1002/mds.25219. [Epub ahead of print] PubMed PMID: 23115116.
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15. October 2012 (IonNeurONet)
Rod and Cone Function in Patients with KCNV2 RetinopathyZobor D, Kohl S, Wissinger B, Zrenner E, Jägle H. PLoS One. 2012;7(10):e46762. doi: 10.1371/journal.pone.0046762. Epub 2012 Oct 15. PubMed PMID: 23077521; PubMed Central PMCID: PMC3471896.
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10. October 2012 (IonNeurONet)
eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation InitiationBorck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L. Mol Cell. 2012 Oct 10. doi:pii: S1097-2765(12)00781-2. 10.1016/j.molcel.2012.09.005. [Epub ahead of print] PubMed PMID: 23063529.
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4. October 2012 (IonNeurONet)
Paroxysmal exercise-induced dyskinesia of the handsClark CN, Weber YW, Lerche H, Warner TT. Mov Disord. 2012 Oct;27(12):1579-80. doi: 10.1002/mds.25200. Epub 2012 Oct 4. PubMed PMID: 23037144.
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1. October 2012 (IonNeurONet)
Ion channels in genetic and acquired forms of epilepsyLerche H, Shah M, Beck H, Noebels JL, Johnston D, Vincent A. J Physiol. 2012 Oct 22. [Epub ahead of print] PubMed PMID: 23090947.
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1. October 2012 (IonNeurONet)
The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patientsCavel-Greant D, Lehmann-Horn F, Jurkat-Rott K. Acta Myol. 2012 Oct;31(2):126-33. PubMed PMID: 23097604; PubMed Central PMCID: PMC3476862.
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1. October 2012 (IonNeurONet)
ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitroUrsu SF, Alekov A, Mao NH, Jurkat-Rott K. Acta Myol. 2012 Oct;31(2):144-53. PubMed PMID: 23097607; PubMed Central PMCID: PMC3476861.
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7. September 2012 (IonNeurONet)
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaKohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. Am J Hum Genet. 2012 Sep 7;91(3):527-32. Epub 2012 Aug 16. PubMed PMID: 22901948.
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30. August 2012 (IonNeurONet)
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephalyKakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G. Eur J Med Genet. 2012 Dec;55(12):727-31. doi: 10.1016/j.ejmg.2012.08.010. Epub 2012 Aug 30. PubMed PMID: 22989526.
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19. August 2012 (IonNeurONet)
Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophyWang I, Khan NW, Branham K, Wissinger B, Kohl S, Heckenlively JR. Doc Ophthalmol. 2012 Aug 19. [Epub ahead of print] PubMed PMID: 22903242.
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3. August 2012 (IonNeurONet)
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber’s hereditary optic neuropathyAchilli A, Iommarini L, Olivieri A, Pala M, Hooshiar Kashani B, Reynier P, La Morgia C, Valentino ML, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AM, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio V, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A, Carelli V. PLoS One. 2012;7(8):e42242. Epub 2012 Aug 3. PubMed PMID: 22879922; PubMed Central PMCID: PMC3411744.
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1. August 2012 (IonNeurONet)
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S. Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21. PubMed PMID: 22612257.
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13. July 2012 (IonNeurONet)
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Am J Hum Genet. 2012 Feb 10;90(2):321-30. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209. PubMed PMID: 22325361; PubMed Central PMCID: PMC3276675.
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1. July 2012 (IonNeurONet)
FIRES and NORSE are distinct entitiesKörtvelyessy P, Lerche H, Weber Y. Epilepsia. 2012 Jul;53(7):1276. doi: 10.1111/j.1528-1167.2012.03517.x. PubMed PMID: 22759241.
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1. July 2012 (IonNeurONet)
Rare hereditary diseases with defects in DNA-repairKnoch J, Kamenisch Y, Kubisch C, Berneburg M. Eur J Dermatol. 2012 Jul-Aug;22(4):443-55. doi: 10.1684/ejd.2012.1654. PubMed PMID: 22436139.
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11. June 2012 (IonNeurONet)
Pathophysiological role of omega pore current in channelopathiesJurkat-Rott K, Groome J, Lehmann-Horn F. Front Pharmacol. 2012;3:112. Epub 2012 Jun 11. PubMed PMID: 22701429; PubMed Central PMCID: PMC3372090.
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10. June 2012 (IonNeurONet)
Genome-wide association analysis identifies susceptibility loci for migraine without aura.Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt GM, Pozo-Rosich P, Winsvold B, Nyholt DR, van Oosterhout WP, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter MA, Kaunisto MA, Schoenen J, Raitakari O, Lehtimäki T, Vila-Pueyo M, Göbel H, Wichmann E, Sintas C, Uitterlinden AG, Hofman A, Rivadeneira F, Heinze A, Tronvik E, van Duijn CM, Kaprio J, Cormand B, Wessman M, Frants RR, Meitinger T, Müller-Myhsok B, Zwart JA, Färkkilä M, Macaya A, Ferrari MD, Kubisch C, Palotie A, Dichgans M, van den Maagdenberg AM; International Headache Genetics Consortium. Nat Genet. 2012 Jun 10;44(7):777-82. doi: 10.1038/ng.2307. PubMed PMID: 22683712.
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28. May 2012 (IonNeurONet)
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenitaWeinberger S, Wojciechowski D, Sternberg D, Lehmann-Horn F, Jurkat-Rott K, Becher T, Begemann B, Fahlke C, Fischer M. J Physiol. 2012 Aug 1;590(Pt 15):3449-64. Epub 2012 May 28. PubMed PMID: 22641783.
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23. May 2012 (IonNeurONet)
Genetic testing in neurological diseasesBiskup S, Gasser T. J Neurol. 2012 Jun;259(6):1249-54. Epub 2012 May 23. PubMed PMID: 22619054.
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16. May 2012 (IonNeurONet)
Light-driven calcium signals in mouse cone photoreceptorsWei T, Schubert T, Paquet-Durand F, Tanimoto N, Chang L, Koeppen K, Ott T, Griesbeck O, Seeliger MW, Euler T, Wissinger B. J Neurosci. 2012 May 16;32(20):6981-94. PubMed PMID: 22593066.
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1. May 2012 (IonNeurONet)
Clinical utility gene card for: Werner syndromeHisama FM, Kubisch C, Martin GM, Oshima J. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.265. Epub 2012 Jan 18. PubMed PMID: 22258520; PubMed Central PMCID: PMC3330230.
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1. May 2012 (IonNeurONet)
Rationale for treating oedema in Duchenne muscular dystrophy with eplerenoneLehmann-Horn F, Weber MA, Nagel AM, Meinck HM, Breitenbach S, Scharrer J, Jurkat-Rott K. Acta Myol. 2012 May;31(1):31-9. PubMed PMID: 22655515; PubMed Central PMCID: PMC3440802.
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28. April 2012 (IonNeurONet)
Permanent muscular sodium overload and persistent muscle edema in Duchenne muscular dystrophy: a possible contributor of progressive muscle degenerationWeber MA, Nagel AM, Wolf MB, Jurkat-Rott K, Kauczor HU, Semmler W, Lehmann-Horn F. J Neurol. 2012 Nov;259(11):2385-92. doi: 10.1007/s00415-012-6512-8. Epub 2012 Apr 28. PubMed PMID: 22544297.
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16. April 2012 (IonNeurONet)
Hyperkalemic periodic paralysis and permanent weakness: 3-T MR imaging depicts intracellular 23Na overload–initial results.Amarteifio E, Nagel AM, Weber MA, Jurkat-Rott K, Lehmann-Horn F. Radiology. 2012 Jul;264(1):154-63. Epub 2012 Apr 16. PubMed PMID: 22509051.
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29. March 2012 (IonNeurONet)
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.Weisschuh N, Wissinger B, Gramer E. Mol Vis. 2012;18:751-7. Epub 2012 Mar 29. PubMed PMID: 22509105; PubMed Central PMCID: PMC3324353.
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24. February 2012 (IonNeurONet)
A phenotype map for 14q32.3 terminal deletionsEngels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H. Am J Med Genet A. 2012 Apr;158A(4):695-706. doi:10.1002/ajmg.a.35256. Epub 2012 Feb 24. PubMed PMID: 22367666.
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25. January 2012 (IonNeurONet)
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsyStriano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C; EPICURE Consortium. Neurology. 2012 Feb 21;78(8):557-62. Epub 2012 Jan 25. PubMed PMID: 22282645.
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21. January 2012 (IonNeurONet)
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.Weisschuh N, Aisenbrey S, Wissinger B, Riess A. Mol Vis. 2012;18:174-80. Epub 2012 Jan 21. PubMed PMID: 22312185; PubMed Central PMCID: PMC3272051.
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1. January 2012 (IonNeurONet)
Genes and mutations in autosomal dominant cone and cone-rod dystrophyKohl S, Kitiratschky V, Papke M, Schaich S, Sauer A, Wissinger B. Adv Exp Med Biol. 2012;723:337-43. PubMed PMID: 22183351.
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11. June 2011 (IonNeurONet)
PRRT2 mutations are the major cause of benign familial infantile seizuresSchubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG. Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11. PubMed PMID: 22623405.
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Artikel IonNeurONet in: Verbundforschung für seltene Erkrankungen. Gemeinsam zu Diagnose und Therapie