Solo in Oz. [elektronicky zdroj]

Autor: Harris, Mandy

Externí odkaz: Kolekce e-knih KNAV (Registrovani uzivatele: plny text online 5 minut, dalsi pristup na vyzadani. Registered users: full text online 5 minutes, further access on request.)

PO-01-135 SAFETY AND TOLERABILITY OF INITIATING ORAL SOTALOL AS OUTPATIENT

Autor: Mahmood, Riaz, Iqbal, Aqsa, Adams, Alex, Moyine, Christelle Yakana, Dalton, Drew, Ehrenreich, Heidi, Adkins, Keith, Harris, Mandy, Abu-Alrub, Taylor, Rylee, Kayla D., Ahn, Joon, Prater, Stephen P., Weisman, David, Chandra, Shalabh

Publikováno v: In Heart Rhythm May 2023 20(5) Supplement:S170-S170

The phenotypic spectrum of SCN8A encephalopathy

Autor: Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, Mcmahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, De Kovel, Carolien G. F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Zara, Federico, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.

Publikováno v: Neurology
Larsen, J, Carvill, G L, Gardella, E, Kluger, G, Schmiedel, G, Barisic, N, Depienne, C, Brilstra, E, Mang, Y, Nielsen, J E K, Kirkpatrick, M, Goudie, D, Goldman, R, Jähn, J A, Jepsen, B, Gill, D, Döcker, M, Biskup, S, McMahon, J M, Koeleman, B, Harris, M, Braun, K, de Kovel, C G F, Marini, C, Specchio, N, Djémié, T, Weckhuysen, S, Tommerup, N, Troncoso, M, Troncoso, L, Bevot, A, Wolff, M, Hjalgrim, H, Guerrini, R, Scheffer, I E, Mefford, H C, Møller, R S & EuroEPINOMICS RES Consortium 2015, ' The phenotypic spectrum of SCN8A encephalopathy ', Neurology, vol. 84, no. 5, pp. 480-489 . https://doi.org/10.1212/WNL.0000000000001211

OBJECTIVE: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations.METHODS:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ff62ae94d054b70e7770469a440548
https://doi.org/10.1212/wnl.0000000000001211

Intractable Seizures, Developmental Delay, and the Ketogenic Diet

Autor: Harris, Mandy Lyn O., Patel, Hema, Garg, Bhuwan P.

Publikováno v: In Seminars in Pediatric Neurology 2008 15(4):209-211

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