Lack of SCN1A mutations in familial febrile seizures

Epilepsia

Volumn 43, Issue 5, 2002, Pages 559-562

  Malacarne, Michela ^a,b   Madia, Francesca ^a   Gennaro, Elena ^a   Vacca, Daniela ^c   Güney, A Ilter ^d   Buono, Salvatore ^e   Bernardina, Bernardo Dalla ^e,f   Gaggero, Roberto ^e,g   Gobbi, Giuseppe ^e,h   Lispi, Maria Luisa ^e,i   Malamaci, Daniela ^e,g   Melideo, Giustino ^e,h   Roccella, Maurizio ^e,j   Sferro, Caterina ^e,k   Tiberti, Alessandra ^l   Vanadia, Francesca ^e,m   Vigevano, Federico ^e,i   Viri, Franco ^e,n   Vitali, Maria Rosa ^a,e   Bricarelli, Franca Dagna ^a   Bianchi, Amedeo ^e,o   Zara, Federico ^a,e   more..

^a GALLIERA HOSPITAL   (Italy)

^b Baschirotto Institute for Rare Diseases   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d MARMARA UNIVERSITY   (Turkey)

^e SANTOBONO PAUSILIPON CHILDREN S HOSPITAL   (Italy)

^f UNIVERSITY OF VERONA   (Italy)

^g UNIVERSITY OF GENOA   (Italy)

^h MAGGIORE HOSPITAL   (Italy)

ⁱ BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^j UNIVERSITY OF PALERMO   (Italy)

^k UNIVERSITY OF MESSINA   (Italy)

^l SPEDALI CIVILI   (Italy)

^m Division of Child Neuropsychiatry   (Italy)

ⁿ FATEBENEFRATELLI HOSPITAL   (Italy)

^o IRCCS POLICLINICO SAN DONATO   (Italy)

more..

Author keywords

Febrile convulsions; Genetics; Idiopathic epilepsy; Ion channels; Mutations

Indexed keywords

ION CHANNEL;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOMAL LOCALIZATION; CLINICAL ARTICLE; FEBRILE CONVULSION; FEMALE; GENE MUTATION; GENE SEGREGATION; GENETICS; HUMAN; IDIOPATHIC DISEASE; MALE; MULTIGENE FAMILY; PRIORITY JOURNAL; RECEPTOR GENE;

ADOLESCENT; ADULT; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; FEMALE; GENE AMPLIFICATION; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 0036093827     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1528-1157.2002.29301.x     Document Type: Article

References (14)

1. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS
2. +-channel α 1 subunit gene SCN1B
3. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
4. Generalized epilepsy with febrile seizures plus: A genetic disorder with heterogeneous clinical phenotypes
5. Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
6. Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus
7. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy
8. A receptor γ2-subunit in childhood absence epilepsy and febrile seizures
9. v1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
10. A receptor dysfunction in epilepsy: A mutation in the α2-subunit gene
11. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
12. Suggestion of a major gene for familial febrile convulsions to 8q13-21
13. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
14. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31