TY  - JOUR
AB  - Intragenic rearrangements and sequence variants in the calmodulin-binding transcription activator 1 gene (CAMTA1) can result in a spectrum of clinical presentations, most notably congenital ataxia with or without intellectual disability. We describe for the first time a myoclonic dystonia-predominant phenotype associated with a novel CAMTA1 sequence variant. Furthermore, by identifying an additional, recurrent CAMTA1 sequence variant in an individual with a more typical neurodevelopmental disease manifestation, we contribute to the elucidation of phenotypic variability associated with CAMTA1 gene mutations.
AU  - Dzinovic, I.
AU  - Serranová, T.*
AU  - Prouteau, C.*
AU  - Colin, E.*
AU  - Ziegler, A.*
AU  - Winkelmann, J.
AU  - Jech, R.*
AU  - Zech, M.
C1  - 61438
C2  - 50247
CY  - One New York Plaza, Suite 4600, New York, Ny, United States
SP  - 137-141
TI  - Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
JO  - Neurogenetics
VL  - 22
IS  - 2
PB  - Springer
PY  - 2021
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - The affiliation of author Robert Jech was incorrectly indicated in the originally published version of this paper.
AU  - Dzinovic, I.
AU  - Serranová, T.*
AU  - Prouteau, C.*
AU  - Colin, E.*
AU  - Ziegler, A.*
AU  - Winkelmann, J.
AU  - Jech, R.*
AU  - Zech, M.
C1  - 63725
C2  - 51501
CY  - One New York Plaza, Suite 4600, New York, Ny, United States
TI  - Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
JO  - Neurogenetics
PB  - Springer
PY  - 2021
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - The spectrum of coenzyme Q(10)(CoQ(10)) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain-containing kinase 3 gene (ADCK3). Due to the potential response to CoQ(10)supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygousADCK3variant and an unusual presentation consisting of isolated writer's cramp with adult-onset. Cerebellar ataxia developed later in the disease course and remained stable during the follow-up. This report highlights that ARCA2 should be considered in the differential diagnosis of familial writer's cramp.
AU  - Amprosi, M.*
AU  - Zech, M.
AU  - Steiger, R.*
AU  - Nachbauer, W.*
AU  - Eigentler, A.*
AU  - Gizewski, E.R.*
AU  - Guger, M.*
AU  - Indelicato, E.*
AU  - Boesch, S.*
C1  - 59973
C2  - 49150
CY  - One New York Plaza, Suite 4600, New York, Ny, United States
SP  - 81–86
TI  - Familial writer's cramp: A clinical clue for inherited coenzyme Q10 deficiency.
JO  - Neurogenetics
VL  - 22
PB  - Springer
PY  - 2020
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Familial cerebral cavernous malformations (CCMs) predispose to seizures and hemorrhagic stroke. Molecular genetic analyses of CCM1, CCM2, and CCM3 result in a mutation detection rate of up to 98%. However, only whole genome sequencing (WGS) in combination with the Manta algorithm for analyses of structural variants revealed a heterozygous 24 kB inversion including exon 1 of CCM2 in a 12-year-old boy with familial CCMs. Its breakpoints were fine-mapped, and quantitative analysis on RNA confirmed reduced CCM2 expression. Our data expand the spectrum of CCM mutations and indicate that the existence of a fourth CCM disease gene is rather unlikely.
AU  - Spiegler, S.*
AU  - Rath, M.*
AU  - Hoffjan, S.*
AU  - Dammann, P.*
AU  - Sure, U.*
AU  - Pagenstecher, A.*
AU  - Strom, T.M.
AU  - Felbor, U.*
C1  - 52500
C2  - 44019
CY  - New York
SP  - 55–59
TI  - First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.
JO  - Neurogenetics
VL  - 19
IS  - 1
PB  - Springer
PY  - 2018
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Mutations in PSEN1 are responsible for familial Alzheimer’s disease (FAD) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset dementia cases. Parkinsonism in FAD has been mainly described in advanced disease stages. We characterized a patient presenting with early-onset dystonia-parkinsonism later complicated by dementia and myoclonus. Brain MRI showed signs of iron accumulation in the basal ganglia mimicking neurodegeneration with brain iron accumulation (NBIA) as well as fronto-temporal atrophy. Whole exome sequencing revealed a novel PSEN1 mutation and segregation within the family demonstrated the mutation arose de novo. We suggest considering PSEN1 mutations in cases of dystonia-parkinsonism with positive DAT-Scan, later complicated by progressive cognitive decline and cortical myoclonus even without a dominant family history.
AU  - Carecchio, M.*
AU  - Picillo, M.*
AU  - Valletta, L.*
AU  - Elia, A.E.*
AU  - Haack, T.B.
AU  - Cozzolino, A.*
AU  - Vitale, A.*
AU  - Garavaglia, B.*
AU  - Iuso, A.
AU  - Bagella, C.F.*
AU  - Pappatà, S.*
AU  - Barone, P.*
AU  - Prokisch, H.
AU  - Romito, L.*
AU  - Tiranti, V.*
C1  - 51541
C2  - 43294
CY  - New York
SP  - 175-178
TI  - Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: A de novo PSEN-1 mutation.
JO  - Neurogenetics
VL  - 18
IS  - 3
PB  - Springer
PY  - 2017
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Mitochondrial diseases are characterised by clinical, molecular and functional heterogeneity, reflecting their bi-genomic control. The nuclear gene GFM2 encodes mtEFG2, a protein with an essential role during the termination stage of mitochondrial translation. We present here two unrelated patients harbouring different and previously unreported compound heterozygous (c.569G > A, p.(Arg190Gln); c.636delA, p.(Glu213Argfs*3)) and homozygous (c.275A > C, p.(Tyr92Ser)) recessive variants in GFM2 identified by whole exome sequencing (WES) together with histochemical and biochemical findings to support the diagnoses of pathological GFM2 variants in each case. Both patients presented similarly in early childhood with global developmental delay, raised CSF lactate and abnormalities on cranial MRI. Sanger sequencing of familial samples confirmed the segregation of bi-allelic GFM2 variants with disease, while investigations into steady-state mitochondrial protein levels revealed respiratory chain subunit defects and loss of mtEFG2 protein in muscle. These data demonstrate the effects of defective mtEFG2 function, caused by previously unreported variants, confirming pathogenicity and expanding the clinical phenotypes associated with GFM2 variants.
AU  - Glasgow, R.I.C.*
AU  - Thompson, K.*
AU  - Barbosa, I.A.*
AU  - He, L.*
AU  - Alston, C.L.*
AU  - Deshpande, C.*
AU  - Simpson, M.A.*
AU  - Morris, A.A.M.*
AU  - Neu, A.*
AU  - Löbel, U.*
AU  - Hall, J.*
AU  - Prokisch, H.
AU  - Haack, T.B.*
AU  - Hempel, M.*
AU  - McFarland, R.*
AU  - Taylor, R.W.*
C1  - 52264
C2  - 43858
CY  - New York
SP  - 1-9
TI  - Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
JO  - Neurogenetics
VL  - 18
IS  - 4
PB  - Springer
PY  - 2017
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Combined and complex dystonias are heterogeneous movement disorders combining dystonia with other motor and/or systemic signs. Although we are beginning to understand the diverse molecular causes of these disease entities, clinical pattern recognition and conventional genetic workup achieve an etiological diagnosis only in a minority of cases. Our goal was to provide a window into the variable genetic origins and distinct clinical patterns of combined/complex dystonia more broadly. Between August 2016 and January 2017, we applied whole-exome sequencing to a cohort of nine patients with varied combined and/or complex dystonic presentations, being on a diagnostic odyssey. Bioinformatics analyses, co-segregation studies, and sequence-interpretation algorithms were employed to detect causative mutations. Comprehensive clinical review was undertaken to define the phenotypic spectra and optimal management strategies. On average, we observed a delay in diagnosis of 23 years before whole-exome analysis enabled determination of each patient's genetic defect. Whereas mutations in ACTB, ATP1A3, ADCY5, and SGCE were associated with particular phenotypic clues, trait manifestations arising from mutations in PINK1, MRE11A, KMT2B, ATM, and SLC6A1 were different from those previously reported in association with these genes. Apart from improving counseling for our entire cohort, genetic findings had actionable consequences on preventative measures and therapeutic interventions for five patients. Our investigation confirms unique genetic diagnoses, highlights key clinical features and phenotypic expansions, and suggests whole-exome sequencing as a first-tier diagnostic for combined/complex dystonia. These results might stimulate independent teams to extend the scope of agnostic genetic screening to this particular phenotypic group that remains poorly characterized through existing studies.
AU  - Zech, M.
AU  - Jech, R.*
AU  - Wagner, M.
AU  - Mantel, T.*
AU  - Boesch, S.*
AU  - Nocker, M.*
AU  - Jochim, A.*
AU  - Berutti, R.
AU  - Havránková, P.*
AU  - Fečíková, A.*
AU  - Kemlink, D.*
AU  - Roth, J.*
AU  - Strom, T.M.
AU  - Poewe, W.*
AU  - Růžička, E.*
AU  - Haslinger, B.*
AU  - Winkelmann, J.
C1  - 51768
C2  - 43437
CY  - New York
SP  - 195–205 
TI  - Molecular diversity of combined and complex dystonia: Insights from diagnostic exome sequencing.
JO  - Neurogenetics
VL  - 18
IS  - 4
PB  - Springer
PY  - 2017
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - The mitochondrial ribosomes are required for the synthesis of mitochondrial DNA-encoded subunits of the oxidative phosphorylation (OXPHOS) system. Here, we present a neonate with fatal lactic acidosis and combined OXPHOS deficiency caused by a homozygous mutation in MRPS22, a gene encoding a mitochondrial ribosomal small subunit protein. Brain imaging revealed several structural abnormalities, including agenesis of the corpus callosum, multiple periventricular cysts, and suspected intracerebral calcifications. Moreover, echocardiography demonstrated atrial and ventricular septal defects as well as a coronary artery fistula. Our report expands the clinical spectrum of this rare mitochondrial disorder and confirms the severe clinical phenotype associated with this defect.
AU  - Baertling, F.*
AU  - Haack, T.B.
AU  - Rodenburg, R.J.*
AU  - Schaper, J.*
AU  - Seibt, A.*
AU  - Strom, T.M.
AU  - Meitinger, T.
AU  - Mayatepek, E.*
AU  - Hadzik, B.*
AU  - Selcan, G.*
AU  - Prokisch, H.
AU  - Distelmaier, F.*
C1  - 44015
C2  - 39449
CY  - New York
SP  - 237-240
TI  - MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
JO  - Neurogenetics
VL  - 16
IS  - 3
PB  - Springer
PY  - 2015
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Defects in mitochondrial translation may lead to combined respiratory chain deficiency and typically cause childhood-onset multisystem disease. Only recently, a homozygous missense mutation (c.467T > G, p.Leu156Arg) in MRPL44, encoding a protein of the large subunit of the mitochondrial ribosome, has been identified in two siblings with hypertrophic cardiomyopathy. Using exome sequencing, we identified two further unrelated patients harboring the previously reported mutation c.467T > G, p.Leu156Arg in MRPL44 in the homozygous state and compound heterozygous with a novel missense mutation c.233G > A, p.Arg78Gln, respectively. Both patients presented with childhood-onset hypertrophic cardiomyopathy, which seems to be the core clinical feature associated with MRPL44 deficiency. However, we observed several additional clinical signs and symptoms including pigmentary retinopathy, hemiplegic migraine, Leigh-like lesions on brain MRI, renal insufficiency, and hepatopathy. Our findings expand the clinical spectrum associated with MRPL44 mutations and indicate that MRPL44-associated mitochondrial dysfunction can also manifest as a progressive multisystem disease with central nervous system involvement. Of note, neurological and neuro-ophthalmological impairment seems to be a disease feature of the second and third decades of life, which should be taken into account in patient management and counseling.
AU  - Distelmaier, F.*
AU  - Haack, T.B.
AU  - Catarino, C.B.*
AU  - Gallenmüller, C.*
AU  - Rodenburg, R.J.T.*
AU  - Strom, T.M.
AU  - Baertling, F.*
AU  - Meitinger, T.
AU  - Mayatepek, E.*
AU  - Prokisch, H.
AU  - Klopstock, T.*
C1  - 44083
C2  - 36812
SP  - 319-323
TI  - MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.
JO  - Neurogenetics
VL  - 16
IS  - 4
PY  - 2015
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Approximately 20 % of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset PD to identify 15 potentially causal variants. Segregation analysis and frequency assessment in 862 PD cases and 1,014 ethnically matched controls highlighted variants in EEF1D and LRRK1 as the best candidates. Mutation screening of the coding regions of these genes in 862 cases and 1,014 controls revealed several novel non-synonymous variants in both genes in cases and controls. An in silico multi-model bioinformatics analysis was used to prioritize identified variants in LRRK1 for functional follow-up. However, protein expression, subcellular localization, and cell viability were not affected by the identified variants. Although it has yet to be proven conclusively that variants in LRRK1 are indeed causative of PD, our data strengthen a possible role for LRRK1 in addition to LRRK2 in the genetic underpinnings of PD but, at the same time, highlight the difficulties encountered in the study of rare variants identified by next-generation sequencing in diseases with autosomal dominant or complex patterns of inheritance.
AU  - Schulte, E.C.
AU  - Ellwanger, D.C.*
AU  - Dihanich, S.*
AU  - Manzoni, C.*
AU  - Stangl, K.*
AU  - Schormair, B.
AU  - Graf, E.
AU  - Eck, S.
AU  - Mollenhauer, B.*
AU  - Haubenberger, D.*
AU  - Pirker, W.*
AU  - *
AU  - Brücke, T.*
AU  - Lichtner, P.
AU  - Peters, A.
AU  - Gieger, C.
AU  - Trenkwalder, C.*
AU  - Mewes, H.-W.*
AU  - Meitinger, T.
AU  - Lewis, P.A.*
AU  - Klünemann, H.H.*
AU  - Winkelmann, J.
C1  - 28394
C2  - 33356
CY  - New York
SP  - 49-57
TI  - Rare variants in LRRK1 and Parkinson's disease.
JO  - Neurogenetics
VL  - 15
IS  - 1
PB  - Springer
PY  - 2014
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - We performed a replication study in 883 Austrian multiple sclerosis (MS) patients and 972 control individuals for 25 previously risk-associated loci (39 SNPs). Two loci, rs1109670 (DDEF2/MBOAT2, p < 0.02) and rs16914086 (TBC1D2, p < 0.05), are replicated here for the first time. Furthermore, we tested all 39 SNPs for association with age at disease onset and measures of disease severity. We observed a trend for association of rs3135388 (HLA-DRB1*1501, p < 0.01), rs7090530 (IL2RA, p < 0.026) and rs1841770 (ZIC1, p < 0.017) with a younger age at MS onset and of rs12044852 (CD58, p < 0.035) with shorter time to reach EDSS6.
AU  - Schmied, M.C.*
AU  - Zehetmayer, S.*
AU  - Reindl, M.*
AU  - Ehling, R.*
AU  - Bajer-Kornek, B.*
AU  - Leutmezer, F.*
AU  - Zebenholzer, K.*
AU  - Hotzy, C.*
AU  - Lichtner, P.
AU  - Meitinger, T.
AU  - Wichmann, H.-E.
AU  - Illig, T.
AU  - Gieger, C.
AU  - Huber, K.*
AU  - Khalil, M.*
AU  - Fuchs, S.*
AU  - Schmidt, H.*
AU  - Auff, E.*
AU  - Kristoferitsch, W.*
AU  - Fazekas, F.*
AU  - Berger, T.*
AU  - Vass, K.*
AU  - *
C1  - 8018
C2  - 29938
SP  - 181-187
TI  - Replication study of Multiple Sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
JO  - Neurogenetics
VL  - 13
IS  - 2
PB  - Springer
PY  - 2012
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Recently, mutations in eukaryotic translation initiation factor 4G1 (EIF4G1) were reported as a rare cause of familial Parkinson's disease (PD). We screened the 33 exons of EIF4G1 by high-resolution melting curve analysis for variants in our Central European cohort of 376 PD cases. Variant frequency was assessed in a total of 975 PD cases and 1,014 general population controls. Eight novel nonsynonymous and four synonymous variants were identified. In our cohort, novel and previously identified nonsynonymous variants were very rare. Although it is possible that our general population controls also comprise individuals who have or could develop PD in the future, the presence of the original mutation (EIF4G1 p.Arg1205 His) in three controls only, raises questions about the causality of this variant with regard to PD.
AU  - Schulte, E.C.
AU  - Mollenhauer, B.*
AU  - *
AU  - Bereznai, B.*
AU  - Lichtner, P.
AU  - Haubenberger, D.*
AU  - Pirker, W.*
AU  - Brücke, T.*
AU  - Molnar, M.J.*
AU  - Peters, A.
AU  - Gieger, C.
AU  - Trenkwalder, C.*
AU  - Winkelmann, J.
C1  - 8573
C2  - 30266
SP  - 281-285
TI  - Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.
JO  - Neurogenetics
VL  - 13
IS  - 3
PB  - Springer
PY  - 2012
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Parkinson's disease (PD) is a common neurodegenerative disorder characterized by the loss of dopaminergic neurons and the presence of Lewy bodies. Alpha-synuclein and its interactor synphilin-1 are major components of these inclusions. Rare mutations in the alpha-synuclein and synphilin-1 genes have been implicated in the pathogenesis of PD; however, the normal function of these proteins is far from being completely elucidated. We, thus, searched for novel synphilin-1-interacting proteins and deciphered periphilin as new interactor. Periphilin isoforms are involved in multiple cellular functions in vivo, and the protein is broadly expressed during embryogenesis and in the adult brain. We show that periphilin displays an overlapping expression pattern with synphilin-1 in cellular and animal models and in Lewy bodies of PD patients. Functional studies demonstrate that periphilin, as previously shown for synphilin-1, displays an antiapoptotic function by reducing caspase-3 activity. Searching for mutations in the periphilin gene, we detected a K69E substitution in two patients of a PD family. Taken together, these findings support for the first time an involvement of periphilin in PD
AU  - Soehn, A.S.*
AU  - Franck, T.*
AU  - Biskup, S.*
AU  - Giaime, E.*
AU  - Melle,C.*
AU  - Rott, R.*
AU  - Cebo, D.*
AU  - Kalbacher, H.*
AU  - Ott, E.*
AU  - Pahnke, J.*
AU  - Meitinger, T.
AU  - Kruger, R.*
AU  - Gasser, T.*
AU  - Berg, D.*
AU  - von Eggeling, F.*
AU  - Engelender, S.*
AU  - da Costa, C.A.*
AU  - Riess, O.*
C1  - 1601
C2  - 26989
SP  - 203-215
TI  - Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.
JO  - Neurogenetics
VL  - 11
IS  - 2
PB  - Springer
PY  - 2010
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage disorders and constitute the most common group of progressive neurodegenerative diseases in childhood. Most NCLs are inherited in a recessive manner and are clinically characterised by a variable age at onset, epileptic seizures, psychomotor decline, visual impairment and premature death. To date, eight causative genes have been identified to underlie various clinical forms of NCL. We performed a genome-wide linkage analysis followed by sequencing the recently described NCL gene MFSD8 in three affected and three unaffected members of a consanguineous Egyptian family with an autosomal recessively inherited progressive neurodegenerative disorder. The clinical picture of the patients was compatible with a late infantile NCL (LINCL); however, impairment of the visual system was not a cardinal symptom in the respective family. By linkage analysis, we identified two putative loci on chromosome 1p36.11-p35.1 and 4q28.1-q28.2. The latter locus (4q28.1-q28.2) contained the MFSD8 gene, comprising a novel homozygous missense mutation in exon 5 (c.362a>g /p.Tyr121Cys), which segregated with the disease in the three affected sibs. We describe a novel mutation in the previously identified MFSD8 gene in a family with a common phenotype of LINCL, but no clinical report of vision loss. Our results enlarge the mutational and perhaps the nosological spectrum of one of the recently identified subtypes of NCL, called CLN7.
AU  - Stogmann, E.*
AU  - El Tawil, S.*
AU  - Wagenstaller, J.
AU  - Gaber, A.*
AU  - Edris, S.*
AU  - Abdelhady, A.*
AU  - Assem-Hilger, E.*
AU  - Leutmezer, F.*
AU  - Bonelli, S.*
AU  - Baumgartner, C.*
AU  - Zimprich, F.*
AU  - Strom, T.M.
AU  - Zimpel, A.*
C1  - 3528
C2  - 25913
SP  - 73-77
TI  - A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.
JO  - Neurogenetics
VL  - 10
IS  - 1
PB  - Springer
PY  - 2009
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. Investigations of further RLS families showed evidence for genetic locus heterogeneity. We have conducted a genome-wide linkage analysis in a large RLS family of Italian origin with 12 affected members in 3 generations using 5,861 single nucleotide polymorphisms (SNP, 6K Illumina). Linkage analysis was performed under an autosomal-dominant model with a complete penetrance, an allele frequency of 0.003 and a phenocopy rate of 0.005. The genome-wide scan resulted in suggestive evidence for linkage on chromosome 19p with maximum multipoint logarithm of the odds score of 2.61 between markers rs754292 and rs273265. The locus was replicated in a family-based association study in a set of 159 trios of European origin. This study provides evidence for a further RLS locus, thus supporting the picture of RLS as a genetically heterogenous complex trait.
AU  - Kemlink, D.
AU  - Plazzi, G.*
AU  - Vetrugno, R.*
AU  - Provini, F.*
AU  - Polo, O.*
AU  - Stiasny-Kolster, K.*
AU  - Oertel, W.*
AU  - Nevsimalova, S.*
AU  - Sonka, K.*
AU  - Högl, B.*
AU  - Frauscher, B.*
AU  - Hadjigeorgiou, G.M.*
AU  - Pramstaller, P.P.*
AU  - Lichtner, P.
AU  - Meitinger, T.
AU  - Müller-Myhsok, B.*
AU  - Winkelmann, J.
AU  - Montagna, P.*
C1  - 383
C2  - 25620
SP  - 75-82
TI  - Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13.
JO  - Neurogenetics
VL  - 9
IS  - 2
PB  - Springer
PY  - 2008
SN  - 1364-6745
ER  - 

TY  - JOUR
AB  - Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies in our population, we screened 96 patients with different epilepsy syndromes and a putative genetic background. No definite mutations were found in our study population. We conclude that mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy. © Springer-Verlag 2006.
AU  - Stogmann, E.*
AU  - Lichtner, P.
AU  - Baumgartner, C.*
AU  - Schmied, M.*
AU  - Hotzy, C.*
AU  - Asmus, F.*
AU  - Leutmezer, F.*
AU  - Bonelli, S.*
AU  - Assem-Hilger, E.
AU  - Vass, K.*
AU  - Hatala, K.*
AU  - Strom, T.M.
AU  - Meitinger, T.
AU  - Zimprich, F.*
AU  - *
C1  - 3226
C2  - 24218
SP  - 265-268
TI  - Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
JO  - Neurogenetics
VL  - 7
IS  - 4
PY  - 2006
SN  - 1364-6745
ER  - 

TY  - JOUR
AU  - Asmus, F.*
AU  - Schoenian, S.*
AU  - Lichtner, P.
AU  - Münz, M.*
AU  - Mayer, P.*
AU  - Müller-Myhsok, B.*
AU  - *
AU  - Remschmidt, H.*
AU  - Hebebrand, J.*
AU  - Bandmann, O.*
AU  - Gasser, T.*
C1  - 23508
C2  - 31364
SP  - 55-56
TI  - Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome.
JO  - Neurogenetics
VL  - 6
IS  - 1
PB  - Springer
PY  - 2005
SN  - 1364-6745
ER  -