Two novel scn1a missense mutations in generalized epilepsy with febrile seizures plus

Epilepsia

Volumn 44, Issue 9, 2003, Pages 1257-1258

  Annesi, Grazia ^a   Gambardella, Antonio ^a   Carrideo, Sara ^a   Incorpora, Gemma ^c   Labate, Angelo ^a   Pasqua, Angela Aurora ^a   Civitelli, Donatella ^a   Polizzi, Agata ^c   Annesi, Ferdinanda ^a   Spadafora, Patrizia ^a   Tarantino, Patrizia ^c   Cirò Candiano, Innocenza C ^a   Romeo, Nelide ^a   De Marco, Elvira Valeria ^c   Ventura, Patrizia ^c   LePiane, Emilio ^c   Zappia, Mario ^a   Aguglia, Umberto ^c   Pavone, Lorenzo ^c   Quattrone, Aldo ^a,b  

^a INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

PHENOBARBITAL; VALPROIC ACID;

DNA EXTRACTION; FEBRILE CONVULSION; GABRG2 GENE; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; ITALY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; SCN1A GENE; SCN1B GENE; SHORT SURVEY;

EPILEPSY, GENERALIZED; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 0042415672     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1528-1157.2003.22503.x     Document Type: Short Survey

References (6)

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4. Ohmori I, Ouchida M, Ohtsuka Y, et al. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295:17-23.
5. Scheffer IE. Severe infantile epilepsies: molecular genetics challenge clinical classification. Brain 2003;3:513-4.
6. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, et al. Mutations of sodium channel α-subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003;3:531-46.