Emi Mazaki

Author PubWeight™ 13.67^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.	J Neurosci	2007	4.34
2	A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.	J Neurosci	2004	2.31
3	A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.	Neurobiol Dis	2006	1.45
4	Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.	Hum Mol Genet	2013	1.32
5	A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.	Epilepsia	2012	1.01
6	SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy.	Epilepsia	2006	0.99
7	Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.	Epilepsy Res	2007	0.90
8	Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.	Hum Mutat	2010	0.87
9	Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.	Epilepsia	2010	0.85