Recessive loss-of-function mutation in the pacemaker HCN2 Channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy

Journal of Neuroscience

Volumn 31, Issue 48, 2011, Pages 17327-17337

  DiFrancesco, Jacopo C ^a   Barbuti, Andrea ^b,c   Milanesi, Raffaella ^b   Coco, Stefania ^b   Bucchi, Annalisa ^b   Bottelli, Georgia ^b   Ferrarese, Carlo ^a   Franceschetti, Silvana ^d   Terragni, Benedetta ^d   Baruscotti, Mirko ^b,c   DiFrancesco, Dario ^b,c  

^a SAN GERARDO HOSPITAL   (Italy)

^b Dipartimento di Scienze Biomolecolari e Biotecnologie   (Italy)

^c Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata   (Italy)

^d Istituto Neurologico C   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC NUCLEOTIDE GATED CHANNEL; CYCLIC NUCLEOTIDE GATED CHANNEL 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; CHANNEL GATING; CONTROLLED STUDY; ELECTROPHYSIOLOGY; EPILEPTOGENESIS; GENE; GENERALIZED EPILEPSY; GENETIC SCREENING; HCN 1 GENE; HCN 2 GENE; HOMOZYGOSITY; HUMAN; IDIOPATHIC DISEASE; IMMUNOFLUORESCENCE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; NERVE CELL EXCITABILITY; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; RECESSIVE INHERITANCE; SITE DIRECTED MUTAGENESIS;

ACTION POTENTIALS; ADULT; ALLELES; ANIMALS; CELLS, CULTURED; CEREBRAL CORTEX; CHILD; EPILEPSY; HUMANS; ION CHANNEL GATING; ION CHANNELS; MALE; MUTATION; NEURONS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RATS; TRANSFECTION;

EID: 82555174709     PISSN: 02706474     EISSN: 15292401     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.3727-11.2011     Document Type: Article

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