De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nature Genetics

Volumn 46, Issue 6, 2014, Pages 640-645

  Nava, Caroline ^a,b   Dalle, Carine ^a,c   Rastetter, Agnès ^a   Striano, Pasquale ^d   De Kovel, Carolien G F ^e   Nabbout, Rima ^f,g   Cancès, Claude ^h   Ville, Dorothée ⁱ   Brilstra, Eva H ^e   Gobbi, Giuseppe ^j   Raffo, Emmanuel ^k   Bouteiller, Delphine ^c   Marie, Yannick ^c   Trouillard, Oriane ^a,b   Robbiano, Angela ^d   Keren, Boris ^a   Agher, Dahbia ^a   Roze, Emmanuel ^a,b   Lesage, Suzanne ^a,b   Nicolas, Aude ^a,b   Brice, Alexis ^a,b   Baulac, Michel ^a,b   Vogt, Cornelia ^l   El Hajj, Nady ^l   Schneider, Eberhard ^l   Suls, Arvid ^m,n   Weckhuysen, Sarah ^m,n   Gormley, Padhraig ^o   Lehesjoki, Anna Elina ^p,q   De Jonghe, Peter ^m,n   Helbig, Ingo ^r   Baulac, Stéphanie ^a,b   Zara, Federico ^d   Koeleman, Bobby P C ^e   Haaf, Thomas ^l   Leguern, Eric ^a,b   Depienne, Christel ^a,b,l   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^d G GASLINI INSTITUTE   (Italy)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g INSERM   (France)

^h HÔPITAL DES ENFANTS   (France)

ⁱ HOSPICES CIVILS DE LYON   (France)

^j RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^k CHU NANCY BRABOIS   (France)

^l UNIVERSITY OF WÜRZBURG   (Germany)

^m DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

ⁿ UNIVERSITY OF ANTWERP   (Belgium)

^o WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^p FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^q UNIVERSITY OF HELSINKI   (Finland)

^r UNIVERSITY OF KIEL   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BRAIN DISEASE; CHANNELOPATHY; CLINICAL FEATURE; CONTROLLED STUDY; EPILEPSY; EXOME; FEMALE; FOLLOW UP; GENE; HUMAN; HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL 1 GENE; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PATCH CLAMP TECHNIQUE; PATHOGENICITY; POINT MUTATION; PRIORITY JOURNAL; SEVERE MYOCLONIC EPILEPSY IN INFANCY;

RATTUS;

AICARDI SYNDROME; AMINO ACID SEQUENCE; ANIMALS; CHILD, PRESCHOOL; CHO CELLS; COHORT STUDIES; CRICETINAE; CRICETULUS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED CHANNELS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; PEDIGREE; POINT MUTATION; POTASSIUM CHANNELS; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SPASMS, INFANTILE;

EID: 84901670752     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2952     Document Type: Article

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