Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: First evidence for an altered channel regulation by syntaxin-1A

Human Mutation

Volumn 35, Issue 3, 2014, Pages 356-367

  Soldovieri, Maria Virginia ^a   Boutry Kryza, Nadia ^b,c,d   Milh, Mathieu ^e,f   Doummar, Diane ^g   Heron, Benedicte ^g   Bourel, Emilie ^h   Ambrosino, Paolo ^a   Miceli, Francesco ⁱ   De Maria, Michela ^a   Dorison, Nathalie ^g   Auvin, Stephane ^e,j   Echenne, Bernard ^k   Oertel, Julie ^l   Riquet, Audrey ^m   Lambert, Laetitia ^e,n   Gerard, Marion ^o   Roubergue, Anne ^g   Calender, Alain ^b,c   Mignot, Cyril ^p,q   Taglialatela, Maurizio ^a,i,r   Lesca, Gaetan ^b,c,d   more..

^a UNIVERSITY OF MOLISE   (Italy)

^b HOSPICES CIVILS DE LYON   (France)

^c UNIVERSITÉ LYON 1   (France)

^d LYON NEUROSCIENCE RESEARCH CENTER   (France)

^e INSERM   (France)

^f TIMONE HOSPITAL   (France)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h AMIENS UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^j HÔPITAL ROBERT DEBRÉ   (France)

^k GUI DE CHAULIAC HOSPITAL   (France)

^l CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^m LILLE UNIVERSITY HOSPITAL   (France)

ⁿ UNIVERSITY HOSPITAL OF NANCY   (France)

^o CAEN UNIVERSITY HOSPITAL   (France)

^p PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^q ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^r CSIC UPV Unidad de Biofisica UBF   (Spain)

more..

Author keywords

Benign; Familial; KCNQ2; KCNQ3; Neonatal epilepsy; Syntaxin 1A; Voltage gated potassium channels

Indexed keywords

COMPLEMENTARY DNA; POTASSIUM CHANNEL KCNQ2; POTASSIUM CHANNEL KCNQ3; SYNTAXIN 1A;

ANIMAL CELL; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; FAMILY; FEMALE; GENE DELETION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REGULATORY MECHANISM;

MAMMALIA;

BENIGN; FAMILIAL; KCNQ2; KCNQ3; NEONATAL EPILEPSY; SYNTAXIN-1A; VOLTAGE-GATED POTASSIUM CHANNELS;

ANIMALS; BIOTINYLATION; CHO CELLS; COHORT STUDIES; CRICETULUS; EPILEPSY, BENIGN NEONATAL; FEMALE; GENE DELETION; GERM-LINE MUTATION; HUMANS; KCNQ2 POTASSIUM CHANNEL; KCNQ3 POTASSIUM CHANNEL; MALE; MUTAGENESIS, INSERTIONAL; PEDIGREE; SEQUENCE ALIGNMENT; SYNTAXIN 1;

EID: 84893921173     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22500     Document Type: Article

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