De novo nonsense mutations in the sodium channel gene, SCN2A, in sporadic intractable epilepsy

Clinical Genetics

Volumn 77, Issue 6, 2010, Pages 538-540

  Franciosi, S ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SUBUNIT; SODIUM CHANNEL NAV1.2; VOLTAGE GATED SODIUM CHANNEL;

BENIGN CHILDHOOD EPILEPSY; CELL STRAIN HEK293; FEBRILE CONVULSION; GENE SEQUENCE; HUMAN; HYPERPOLARIZATION; INTRACTABLE EPILEPSY; NONSENSE MUTATION; NOTE; PRIORITY JOURNAL;

EID: 77953956961     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01396_3.x     Document Type: Note

References (5)

1. Schuele SU, Lüders HO. Intractable epilepsy: management and therapeutic alternatives. Lancet Neurol 2008, 7:514-524.
2. Yamakawa K. Na channel gene mutations in epilepsy - the functional consequences. Epilepsy Res 2006, 70(Suppl. 1):S218-222.
3. Sugawara T, Tsurubuchi Y, Agarwala KL. A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. PNAS 2001, 98:6384-6389.
4. Herlenius E, Heron SE, Grinton BE. SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia 2007, 48:1138-1142.
5. Kamiya K, Kaneda M, Sugawara T. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci 2004, 24:2690-2698.