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3. A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability. Bonzanni M; DiFrancesco JC; Milanesi R; Campostrini G; Castellotti B; Bucchi A; Baruscotti M; Ferrarese C; Franceschetti S; Canafoglia L; Ragona F; Freri E; Labate A; Gambardella A; Costa C; Rivolta I; Gellera C; Granata T; Barbuti A; DiFrancesco D Neurobiol Dis; 2018 Oct; 118():55-63. PubMed ID: 29936235 [TBL] [Abstract][Full Text] [Related]
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8. Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy. DiFrancesco JC; Barbuti A; Milanesi R; Coco S; Bucchi A; Bottelli G; Ferrarese C; Franceschetti S; Terragni B; Baruscotti M; DiFrancesco D J Neurosci; 2011 Nov; 31(48):17327-37. PubMed ID: 22131395 [TBL] [Abstract][Full Text] [Related]
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