相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy
Melinda S. Martin et al.
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Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation
Eleonora Colosimo et al.
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Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities
Carla Marini et al.
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Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations
Pasquale Striano et al.
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Panayiotopoulos syndrome:: A prospective study of 192 patients
Roberto Caraballo et al.
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The spectrum of SCNIA-related infantile epileptic encephalopathies
Louise A. Harkin et al.
BRAIN (2007)
Temporal lobe epilepsy and GEFS(+) phenotypes associated with SCN1B mutations
Ingrid E. Scheffer et al.
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Hippocampal sclerosis in severe myoclonic epilepsy in infancy: A retrospective MRI study
Z Siegler et al.
EPILEPSIA (2005)
Generalized epilepsy with febrile seizures plus (GEFS+):: Clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations
P Bonanni et al.
EPILEPSIA (2004)
Mutations of neuronal voltage-gated Na+ channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
G Fukuma et al.
EPILEPSIA (2004)
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
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NEUROLOGY (2003)
Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
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BRAIN (2003)
A study of 43 patients with panayiotopoulos syndrome, a common and benign childhood seizure susceptibility
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EPILEPSIA (2003)
Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A
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EPILEPSY RESEARCH (2002)
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
B Abou-Khalil et al.
NEUROLOGY (2001)
Naυ1.1 mutations cause febrile seizures associated with afebrile partial seizures
T Sugawara et al.
NEUROLOGY (2001)
From ionic currents to molecular mechanisms: The structure and function of voltage-gated sodium channels
WA Catterall
NEURON (2000)
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