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Pregled bibliografske jedinice broj: 1048138

Neurologic phenotypes associated with COL4A1/2 mutations

Zagaglia, Sara; Selch, Christina; Nisevic, Jelena Radic; Mei, Davide; Michalak, Zuzanna; Hernandez-Hernandez, Laura; Krithika, S.; Vezyroglou, Katharina; Varadkar, Sophia M.; Pepler, Alexander et al.
Neurologic phenotypes associated with COL4A1/2 mutations // Neurology, 91 (2018), 22; e2078-e2088 doi:10.1212/wnl.0000000000006567 (međunarodna recenzija, članak, znanstveni)

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Naslov
Neurologic phenotypes associated with COL4A1/2 mutations

Autori
Zagaglia, Sara ; Selch, Christina ; Nisevic, Jelena Radic ; Mei, Davide ; Michalak, Zuzanna ; Hernandez-Hernandez, Laura ; Krithika, S. ; Vezyroglou, Katharina ; Varadkar, Sophia M. ; Pepler, Alexander ; Biskup, Saskia ; Leão, Miguel ; Gärtner, Jutta ; Merkenschlager, Andreas ; Jaksch, Michaela ; Møller, Rikke S. ; Gardella, Elena ; Kristiansen, Britta Schlott ; Hansen, Lars Kjærsgaard ; Vari, Maria Stella ; Helbig, Katherine L. ; Desai, Sonal ; Smith-Hicks, Constance L. ; Hino-Fukuyo, Naomi ; Talvik, Tiina ; Laugesaar, Rael ; Ilves, Pilvi ; Õunap, Katrin ; Körber, Ingrid ; Hartlieb, Till ; Kudernatsch, Manfred ; Winkler, Peter ; Schimmel, Mareike ; Hasse, Anette ; Knuf, Markus ; Heinemeyer, Jan ; Makowski, Christine ; Ghedia, Sondhya ; Subramanian, Gopinath M. ; Striano, Pasquale ; Thomas, Rhys H. ; Micallef, Caroline ; Thom, Maria ; Werring, David J. ; Kluger, Gerhard Josef ; Cross, J. Helen ; Guerrini, Renzo ; Balestrini, Simona ; Sisodiya, Sanjay M.

Izvornik
Neurology (0028-3878) 91 (2018), 22; E2078-e2088

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
COL4A2 protein, human ; White Matter ; Porencephaly

Sažetak
Childhood-onset focal seizures, frequently complicated by status epilepticus and resistance to antiepileptic drugs, was the most commonphenotype.EEGtypicallyshowedfocalepileptiformdischargesinthecontextofotherabnormalities, includinggeneralized sharpwavesorslowing.In46.4%ofnewpatientswithfocalseizures, porencephaliccystsonbrainMRIcolocalizedwiththeareaofthe focal epileptiform discharges. In patients with porencephalic cysts, brain MRI frequently also showed extensive white matter abnormalities, consistent withthe findingof diffusecerebraldisturbanceonEEG.Notably, wealsoidentifiedasubgroup ofpatients with epilepsy as their main clinical feature, in which brain MRI showed nonspecific findings, in particular periventricular leukoencephalopathyandventricularasymmetry.Analysisof15pedigreessuggestedaworseningoftheseverityofclinicalphenotypein succeedinggenerations, particularlywhenmaternallyinherited.Mutationsassociatedwithepilepsywerespreadacross COL4A1 and a clear genotype –phenotype correlation did not emerge. Conclusion COL4A1/COL4A2 mutations typically cause a severe neurologic condition and a broader spectrum of milder phenotypes, in which epilepsy is the predominant feature. Early identification of patients carrying COL4A1/COL4A2 mutations may have important clinical consequences, while for research efforts, omission from large-scale epilepsy sequencing studies of individuals with abnormalities on brain MRI may generate misleading estimates of the genetic contribution to the epilepsies overall.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Rijeka

Profili:

Avatar Url Jelena Radić Nišević (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Zagaglia, Sara; Selch, Christina; Nisevic, Jelena Radic; Mei, Davide; Michalak, Zuzanna; Hernandez-Hernandez, Laura; Krithika, S.; Vezyroglou, Katharina; Varadkar, Sophia M.; Pepler, Alexander et al.
Neurologic phenotypes associated with COL4A1/2 mutations // Neurology, 91 (2018), 22; e2078-e2088 doi:10.1212/wnl.0000000000006567 (međunarodna recenzija, članak, znanstveni)
Zagaglia, S., Selch, C., Nisevic, J., Mei, D., Michalak, Z., Hernandez-Hernandez, L., Krithika, S., Vezyroglou, K., Varadkar, S. & Pepler, A. (2018) Neurologic phenotypes associated with COL4A1/2 mutations. Neurology, 91 (22), e2078-e2088 doi:10.1212/wnl.0000000000006567.
@article{article, author = {Zagaglia, Sara and Selch, Christina and Nisevic, Jelena Radic and Mei, Davide and Michalak, Zuzanna and Hernandez-Hernandez, Laura and Krithika, S. and Vezyroglou, Katharina and Varadkar, Sophia M. and Pepler, Alexander and Biskup, Saskia and Le\~{a}o, Miguel and G\"{a}rtner, Jutta and Merkenschlager, Andreas and Jaksch, Michaela and M\oller, Rikke S. and Gardella, Elena and Kristiansen, Britta Schlott and Hansen, Lars Kj\aersgaard and Vari, Maria Stella and Helbig, Katherine L. and Desai, Sonal and Smith-Hicks, Constance L. and Hino-Fukuyo, Naomi and Talvik, Tiina and Laugesaar, Rael and Ilves, Pilvi and \~{O}unap, Katrin and K\"{o}rber, Ingrid and Hartlieb, Till and Kudernatsch, Manfred and Winkler, Peter and Schimmel, Mareike and Hasse, Anette and Knuf, Markus and Heinemeyer, Jan and Makowski, Christine and Ghedia, Sondhya and Subramanian, Gopinath M. and Striano, Pasquale and Thomas, Rhys H. and Micallef, Caroline and Thom, Maria and Werring, David J. and Kluger, Gerhard Josef and Cross, J. Helen and Guerrini, Renzo and Balestrini, Simona and Sisodiya, Sanjay M.}, year = {2018}, pages = {e2078-e2088}, DOI = {10.1212/wnl.0000000000006567}, keywords = {COL4A2 protein, human, White Matter, Porencephaly}, journal = {Neurology}, doi = {10.1212/wnl.0000000000006567}, volume = {91}, number = {22}, issn = {0028-3878}, title = {Neurologic phenotypes associated with COL4A1/2 mutations}, keyword = {COL4A2 protein, human, White Matter, Porencephaly} }
@article{article, author = {Zagaglia, Sara and Selch, Christina and Nisevic, Jelena Radic and Mei, Davide and Michalak, Zuzanna and Hernandez-Hernandez, Laura and Krithika, S. and Vezyroglou, Katharina and Varadkar, Sophia M. and Pepler, Alexander and Biskup, Saskia and Le\~{a}o, Miguel and G\"{a}rtner, Jutta and Merkenschlager, Andreas and Jaksch, Michaela and M\oller, Rikke S. and Gardella, Elena and Kristiansen, Britta Schlott and Hansen, Lars Kj\aersgaard and Vari, Maria Stella and Helbig, Katherine L. and Desai, Sonal and Smith-Hicks, Constance L. and Hino-Fukuyo, Naomi and Talvik, Tiina and Laugesaar, Rael and Ilves, Pilvi and \~{O}unap, Katrin and K\"{o}rber, Ingrid and Hartlieb, Till and Kudernatsch, Manfred and Winkler, Peter and Schimmel, Mareike and Hasse, Anette and Knuf, Markus and Heinemeyer, Jan and Makowski, Christine and Ghedia, Sondhya and Subramanian, Gopinath M. and Striano, Pasquale and Thomas, Rhys H. and Micallef, Caroline and Thom, Maria and Werring, David J. and Kluger, Gerhard Josef and Cross, J. Helen and Guerrini, Renzo and Balestrini, Simona and Sisodiya, Sanjay M.}, year = {2018}, pages = {e2078-e2088}, DOI = {10.1212/wnl.0000000000006567}, keywords = {COL4A2 protein, human, White Matter, Porencephaly}, journal = {Neurology}, doi = {10.1212/wnl.0000000000006567}, volume = {91}, number = {22}, issn = {0028-3878}, title = {Neurologic phenotypes associated with COL4A1/2 mutations}, keyword = {COL4A2 protein, human, White Matter, Porencephaly} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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