Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

OBJECTIVE: To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype–phenotype correlation. METHODS: We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with COL4A1/COL4A2 mutations. RESULTS: Childhood-onset focal sei...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239/
https://www.ncbi.nlm.nih.gov/pubmed/30413629
http://dx.doi.org/10.1212/WNL.0000000000006567

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