The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy.
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy / Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - ELETTRONICO. - 5:(2020), pp. 0-0. [10.1212/NXG.0000000000000373]
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Dreyer L;Guerrini R;Vetro A;
2020
Abstract
The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy.
| File | Dimensione | Formato | |
|---|---|---|---|
|
e373.full.pdf
accesso aperto
Tipologia:
Pdf editoriale (Version of record)
Licenza:
Creative commons
Dimensione
542 kB
Formato
Adobe PDF
|
542 kB | Adobe PDF |
I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
