A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.
Grazia
G
Annesi
Vito
V
Sofia
Antonio
A
Gambardella
Innocenza C Cirò
IC
Candiano
Patrizia
P
Spadafora
Ferdinanda
F
Annesi
Nunzio
N
Cutuli
Elvira V
EV
De Marco
Donatella
D
Civitelli
Sara
S
Carrideo
Patrizia
P
Tarantino
Rita
R
Barone
Mario
M
Zappia
Aldo
A
Quattrone
D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology*; D005091:Exons / Q000235:genetics; D006801:Humans; D020192:Lafora Disease / Q000150:complications* / Q000235:genetics*; D008297:Male; D009483:Neuropsychological Tests; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D012720:Severity of Illness Index; D044767:Ubiquitin-Protein Ligases
D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human