Pavel Seeman

Summary

Affiliation: Charles University
Country: Czech Republic

Publications

  1. ncbi request reprint Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing
    P Seeman
    Department of Child Neurology, Second School of Medicine, Charles University Prague, V Uvalu 84, Praha 5, Czech Republic
    Int J Mol Med 8:461-8. 2001
  2. ncbi request reprint Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs
    P Seeman
    Department of Child Neurology, 2nd School of Medicine, Charles University Prague, 150 06 Praha 5, Czech Republic
    Int J Mol Med 6:421-6. 2000
  3. ncbi request reprint Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation
    P Seeman
    Department of Child Neurology, Second School of Medicine, Charles University Prague, V Uvalu 84, 150 06 Praha 5, Czech Republic
    Neurology 63:733-5. 2004
  4. ncbi request reprint Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population
    P Seeman
    Department of Child Neurology DNA laboratory, Charles University Prague, 2nd School of Medicine, V Uvalu 84, 150 06 Praha 5, Czech
    Ann Hum Genet 69:9-14. 2005
  5. ncbi request reprint A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene
    Pavel Seeman
    Department of Child Neurology, Second School of Medicine, Charles University and University Hospital Motol, Prague, 150 06 Prague 5, Czech Republic
    Int J Mol Med 9:125-9. 2002
  6. doi request reprint Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease
    Dana Brozková
    DNA Laboratory, Department of Child Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic
    Genet Test Mol Biomarkers 14:3-7. 2010
  7. doi request reprint Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene
    Petra Lassuthová
    Department of Child Neurology, Second School of Medicine, Charles University Prague, Prague, Czech Republic
    Pediatr Neurol 41:127-30. 2009
  8. ncbi request reprint Cancer risk of heterozygotes with the NBN founder mutation
    Eva Seemanova
    DrSc, Department of Clinical Genetics, Charles University Hospital, 2nd Medical School of Charles University, V Uvalu 84, 150 06 Praha 5 Motol, Czech Republic
    J Natl Cancer Inst 99:1875-80. 2007
  9. doi request reprint DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
    Dana Safka Brožková
    DNA Laboratory, Department of Child Neurology, Charles University, 2nd Medical School and University Hospital Motol, Prague, Czech Republic
    Int J Pediatr Otorhinolaryngol 76:1681-4. 2012
  10. doi request reprint Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy
    Dana Brozková
    DNA Laboratory, Department of Child Neurology, Charles University Second Medical School and University Hospital Motol, V Uvalu 84, 15006 Prague, Czech Republic
    Muscle Nerve 44:819-22. 2011

Detail Information

Publications41

  1. ncbi request reprint Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing
    P Seeman
    Department of Child Neurology, Second School of Medicine, Charles University Prague, V Uvalu 84, Praha 5, Czech Republic
    Int J Mol Med 8:461-8. 2001
    ....
  2. ncbi request reprint Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs
    P Seeman
    Department of Child Neurology, 2nd School of Medicine, Charles University Prague, 150 06 Praha 5, Czech Republic
    Int J Mol Med 6:421-6. 2000
    ..8). Three alleles of three different sizes were clearly detected at least once in 88 of them (95.6%). Subsequently this analysis was applied on 312 Czech patients and revealed a CMT1A/HNPP rearrangement in 109 out of them...
  3. ncbi request reprint Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation
    P Seeman
    Department of Child Neurology, Second School of Medicine, Charles University Prague, V Uvalu 84, 150 06 Praha 5, Czech Republic
    Neurology 63:733-5. 2004
    ..Sural nerve biopsy and nerve conduction studies were compatible with the axonal type of CMT. The authors show that progressive hearing loss can be the first symptom in P0 mutation carriers...
  4. ncbi request reprint Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population
    P Seeman
    Department of Child Neurology DNA laboratory, Charles University Prague, 2nd School of Medicine, V Uvalu 84, 150 06 Praha 5, Czech
    Ann Hum Genet 69:9-14. 2005
    ....
  5. ncbi request reprint A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene
    Pavel Seeman
    Department of Child Neurology, Second School of Medicine, Charles University and University Hospital Motol, Prague, 150 06 Prague 5, Czech Republic
    Int J Mol Med 9:125-9. 2002
    ..The patient died recently at the age of 13 years due to respiratory failure. Our results support the data on the importance of this conserved amino acid alanine at codon 242...
  6. doi request reprint Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease
    Dana Brozková
    DNA Laboratory, Department of Child Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic
    Genet Test Mol Biomarkers 14:3-7. 2010
    ..The PANTHER scored five mutations, all but p.Val170Ile, as likely deleterious and supported the pathogenicity of the found mutations. These results provided evidence that these five mutations are causative for CMTX1...
  7. doi request reprint Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene
    Petra Lassuthová
    Department of Child Neurology, Second School of Medicine, Charles University Prague, Prague, Czech Republic
    Pediatr Neurol 41:127-30. 2009
    ..He is the only family member affected. Even though the dystrophy typically affects the heart as well, in the present case these signs are not yet expressed...
  8. ncbi request reprint Cancer risk of heterozygotes with the NBN founder mutation
    Eva Seemanova
    DrSc, Department of Clinical Genetics, Charles University Hospital, 2nd Medical School of Charles University, V Uvalu 84, 150 06 Praha 5 Motol, Czech Republic
    J Natl Cancer Inst 99:1875-80. 2007
    ..e., first-, through fourth-degree relatives) of NBS patients in the Czech Republic and Slovakia to test the hypothesis that NBN heterozygotes have an increased cancer risk...
  9. doi request reprint DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
    Dana Safka Brožková
    DNA Laboratory, Department of Child Neurology, Charles University, 2nd Medical School and University Hospital Motol, Prague, Czech Republic
    Int J Pediatr Otorhinolaryngol 76:1681-4. 2012
    ..Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder with mostly autosomal recessive inheritance. So far 40 genes and the same amount of loci with as yet unknown genes were described with autosomal recessive NSHL...
  10. doi request reprint Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy
    Dana Brozková
    DNA Laboratory, Department of Child Neurology, Charles University Second Medical School and University Hospital Motol, V Uvalu 84, 15006 Prague, Czech Republic
    Muscle Nerve 44:819-22. 2011
    ..78+5 G>A, c.320-1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP...
  11. ncbi request reprint GDAP1 mutations in Czech families with early-onset CMT
    L Barankova
    Department of Neurology, 2nd School of Medicine, Charles University Prague, Prague, Czech Republic
    Neuromuscul Disord 17:482-9. 2007
    ..All Czech GDAP1 patients developed involvement of all four limbs evident by the end of second decade, except for one isolated patient showing very slow disease progression. All patients displayed axonal type of neuropathy...
  12. pmc Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability
    E Seemanova
    Department of Clinical Genetics, Institute of Biology and Medical Genetics, 2nd Medical School of Charles University, Prague, Czech Republic
    J Med Genet 43:218-24. 2006
    ..This alteration results in the substitution of the basic amino acid arginine with the non-polar tryptophan and thus could potentially interfere with the function of the NBS1 protein, nibrin...
  13. doi request reprint Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene
    Petra Lassuthová
    DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
    J Neurogenet 26:413-20. 2012
    ..We present evidence that mutations c.279G → A and c.3676-8G →A in the SH3TC2 gene cause aberrant splicing and are therefore pathogenic and causal for CMT4C...
  14. doi request reprint Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family
    Dana Safka Brožková
    DNA Laboratory, Department of Child Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic
    Neuromuscul Disord 22:742-6. 2012
    ..Asp246Asn detected previously, which may modify the phenotype. However, this MPZ variant is benign in heterozygous state alone, because it is also carried by the patient's healthy father...
  15. ncbi request reprint [Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer]
    Eva Seemanova
    Univerzita Karlova v Praze, 2 lékarská fakulta a FN Motol, Ustav biologie a lékarské genetiky
    Cas Lek Cesk 150:97-9. 2011
    ..The syndrome is autosomal recessive determined, in homozygotes is characterized by many disorders including high predisposition to lymphoreticular malignancy in childhood and adolescence...
  16. ncbi request reprint [Mutations in tumor suppressor gene NBS1 in adult patients with malignancies]
    E Seemanova
    Oddelení klinické genetiky Ustavu biologie a lékarské genetiky 2 LF UK, Praha
    Cas Lek Cesk 145:201-3. 2006
    ..However, the proportion of NBS heterozygotes among adult patients with malignancies could be significant and their therapy and follow up should respect their hyperradiosensitivity...
  17. ncbi request reprint [Chromosome instability syndromes]
    E Seemanova
    Oddelení klinické genetiky Ustavu biologie a lékarské genetiky 2 LF UK, Praha
    Cas Lek Cesk 141:16-22. 2002
    ..Early diagnose of SCI and information for families and their doctors about consequences of DNA repair disorder and about their hyperradiosensitivity is essential for improving the clinical prognosis of SCI patients...
  18. ncbi request reprint [Nijmegen breakage syndrome in Slovakia]
    E Seemanova
    Oddelení klinické genetiky UBLG 2 LF UK a FNM, Praha
    Cas Lek Cesk 143:538-41; discussion 542. 2004
    ..The frequency of NBS heterozygotes of the mutation 657de15, which is predominant in the Slavic population was estimated to be in the range of 1:90-1:314 in different parts of Poland, and 1:128-154 among Czech newborns, born 20 years ago...
  19. ncbi request reprint [Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome]
    E Seemanova
    Oddelení klinické genetiky, Ustav biologie a lékarské genetiky 2 LF UK, Praha
    Cas Lek Cesk 145:138-43. 2006
    ..Increased occurrence of malignant solid tumors (1) in families of NBS patients has been described already prior to the identification of the responsible gene, and the increased risk of malignancies in heterozygotes was thus hypothetical...
  20. ncbi request reprint Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients
    Emilie Mikesová
    Department of Child Neurology, DNA Laboratory, 2nd School of Medicine, Charles University Prague, Prague, Czech Republic
    Genet Test 10:215-20. 2006
    ..We conclude that multiplex real-time Q-PCR represents a fast and reliable tool for PLP1 duplication testing in PMD families...
  21. ncbi request reprint Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness
    P Seeman
    Department of Child Neurology, DNA Laboratory, Charles University Prague, 2nd School of Medicine, Prague, Czech Republic
    Clin Genet 66:152-7. 2004
    ..7% of pathogenic alleles. The frequency of 35delG heterozygotes in the Czech Republic is 1 : 29.6. Testing for only the three most common mutations would detect over 96% of all pathogenic alleles in the Czech Republic...
  22. ncbi request reprint Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis
    E Mikesová
    Department of Child Neurology, 2nd School of Medicine, Charles University Prague, V Uvalu 84, 15006 Prague, Czech Republic
    Neuromuscul Disord 15:764-7. 2005
    ..This report shows that EGR2 mutations are rare in Czech patients with demyelinating type of CMT and suggests that different substitutions at codon 359 of EGR2 can cause significantly different phenotypes...
  23. ncbi request reprint High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2
    P Seeman
    Department of Child Neurology, DNA Laboratory, Charles University Prague, 2nd School of Medicine, Prague, Czech Republic
    Clin Genet 69:410-3. 2006
    ..A similar frequency may also be expected in other Central European or Slavic populations...
  24. doi request reprint Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype
    J Haberlova
    DNA Laboratory, Department of Child Neurology, Second School of Medicine, Charles University Prague, 15200 Prague 5, Czech Republic
    Neuromuscul Disord 19:427-8. 2009
    ..This family may represent a new subtype of distal hereditary motor neuropathy...
  25. doi request reprint Mutations in the LMNA gene do not cause axonal CMT in Czech patients
    Petra Lassuthová
    DNA Laboratory, Department of Child Neurology, 2nd School of Medicine, Charles University Prague, Prague, Czech Republic
    J Hum Genet 54:365-8. 2009
    ..Consequently, LMNA mutation screening does not seem to be relevant for axonal CMT DNA diagnostics. A similar situation may apply to other European populations...
  26. doi request reprint Utility of Charcot-Marie-Tooth Neuropathy Score in children with type 1A disease
    Jana Haberlova
    DNA Laboratory, Department of Child Neurology, Second School of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic
    Pediatr Neurol 43:407-10. 2010
    ..Thus, evaluation of disease severity and progression in young children with Charcot-Marie-Tooth disease remains limited, and there is need for other, effective scoring systems...
  27. doi request reprint Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene
    D Brozková
    DNA Laboratory, Department of Child Neurology, Charles University 2nd Medical School and University Hospital Motol, V Uvalu 84, Prague, Czech Republic
    Clin Genet 78:81-7. 2010
    ....
  28. doi request reprint A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT
    L Barankova
    Department of Neurology, 2nd School of Medicine, Charles University Prague, Prague, Czech Republic
    Eur J Neurol 15:548-51. 2008
    ..To date, 10 non-sense or frameshift PRX mutations have been reported in patients with early-onset neuropathy and further disease course consistent with either Dejerine-Sottas neuropathy or slow-progressive demyelinating CMT...
  29. doi request reprint Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA)
    Radka Pourova
    Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
    Ann Hum Genet 74:299-307. 2010
    ..In EVA -negative patients no biallelic mutations were found but 4.9% had monoallelic mutations. SLC26A4 mutations are present mostly in patients with EVA/MD and/or progressive HL and those with affected siblings...
  30. ncbi request reprint Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly
    Pavel Seeman
    Department of Child Neurology, Charles University Hospital, Motol Prague, Czech Republic
    Pediatr Neurol 30:195-200. 2004
    ..1 years at the time before DNA testing, to well under 1 year of age. All new Nijmegen breakage syndrome patients could receive appropriate preventive care, which should significantly improve their life expectancy and prognosis...
  31. ncbi request reprint Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation
    Violeta Mihaylova
    Department of Neurology, Medical University, Sofia, Bulgaria
    Brain 130:1050-61. 2007
    ..Generally, our findings indicate that mutation analysis is of limited value in predicting brain damage, and the option of enzyme replacement therapy should be considered in intermediate NPD...
  32. ncbi request reprint SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
    Craig L Bennett
    Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA, USA
    Ann Neurol 55:713-20. 2004
    ..We report the expression of SIMPLE in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in CMT1C...
  33. ncbi request reprint X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene
    Petr Vondracek
    Department of Pediatric Neurology, University Hospital and Masaryk University, Cernopolni 9, 625 00 Brno, Czech Republic
    Muscle Nerve 31:252-5. 2005
    ....
  34. pmc GJB2 mutations and degree of hearing loss: a multicenter study
    Rikkert L Snoeckx
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Am J Hum Genet 77:945-57. 2005
    ..Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes...
  35. ncbi request reprint MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
    Kristien Verhoeven
    Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen, Belgium
    Brain 129:2093-102. 2006
    ..In patients with a documented family history of CMT2 the frequency of MFN2 mutations was 33% indicating that MFN2 mutations are a major cause in this population...
  36. ncbi request reprint Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
    Joy Irobi
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Nat Genet 36:597-601. 2004
    ..Expression of mutant HSPB8 in cultured cells promoted formation of intracellular aggregates. Our findings provide further evidence that mutations in heat-shock proteins have an important role in neurodegenerative disorders...
  37. doi request reprint Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates
    Sonja Bouwer
    Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia
    Genet Test 11:455-8. 2007
    ..Neonatal screening for W24X among Gypsies would be a justified and cost-effective public health intervention...
  38. doi request reprint Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
    Ines Dierick
    Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
    Brain 131:1217-27. 2008
    ....
  39. ncbi request reprint Hereditary spastic paraplegia 3A associated with axonal neuropathy
    Neviana Ivanova
    Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria
    Arch Neurol 64:706-13. 2007
    ..To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia...
  40. ncbi request reprint Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes
    Yunhong Bai
    Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Arch Neurol 63:1787-94. 2006
    ..Axonal degeneration in the late-onset H10P mutation may be caused by the disruption of axoglial interaction...
  41. ncbi request reprint Hereditary neuropathy with liability to pressure palsy
    Justyna Paprocka
    Department of Paediatrics and Child Neurology, Medical University of Silesia, Upper Silesian Child and Mother Health Institute, ul Medykow 16, 40 752 Katowice, Poland
    Folia Neuropathol 44:290-4. 2006
    ..In the majority of cases HNPP is caused by deletion of the peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2. The authors present a family case with genetically proven HNPP...