Kazuhiro Yamakawa

Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells

Endo, Shogo, Suzuki, Masako, Sumi, Mariko, Nairn, Angus C., Morita, Ryoji, Yamakawa, Kazuhiro, ...

G-substrate, an endogenous substrate for cGMP-dependent protein kinase, exists almost exclusively in cerebellar Purkinje cells, where it is possibly involved in the induction of long-term depression....

A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

Sugawara, Takashi, Tsurubuchi, Yuji, Agarwala, Kishan Lal, Ito, Masatoshi, Fukuma, Goryu, Mazaki-Miyazaki, Emi, ...

Generalized epilepsy with febrile seizures plus (GEFS+), a clinical subset of febrile seizures (FS), is characterized by frequent episodes beyond 6 years of age (FS+) and various types of subsequent...

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures

Rhodes, Thomas H, Vanoye, Carlos G, Ohmori, Iori, Ogiwara, Ikuo, Yamakawa, Kazuhiro, George, Alfred L

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel α1 subunit (NaV1.1), are associated with genetic forms of epilepsy, including generalized epilepsy with febrile seizures...

Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells

Endo, Shogo, Suzuki, Masako, Sumi, Mariko, Nairn, Angus C., Morita, Ryoji, Yamakawa, Kazuhiro, ...

G-substrate, an endogenous substrate for cGMP-dependent protein kinase, exists almost exclusively in cerebellar Purkinje cells, where it is possibly involved in the induction of long-term depression....

A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

Sugawara, Takashi, Tsurubuchi, Yuji, Agarwala, Kishan Lal, Ito, Masatoshi, Fukuma, Goryu, Mazaki-Miyazaki, Emi, ...

Generalized epilepsy with febrile seizures plus (GEFS+), a clinical subset of febrile seizures (FS), is characterized by frequent episodes beyond 6 years of age (FS+) and various types of subsequent...

The Xq22 Inversion Breakpoint Interrupted a Novel Ras-Like GTPase Gene in a Patient with Duchenne Muscular Dystrophy and Profound Mental Retardation

Saito-Ohara, Fumiko, Fukuda, Yoji, Ito, Masahiro, Agarwala, Kishan Lal, Hayashi, Masaharu, Matsuo, Masafumi, ...

A male patient with profound mental retardation, athetosis, nystagmus, and severe congenital hypotonia (Duchenne muscular dystrophy [DMD]) was previously shown to carry a pericentric inversion of the...

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures

Rhodes, Thomas H, Vanoye, Carlos G, Ohmori, Iori, Ogiwara, Ikuo, Yamakawa, Kazuhiro, George, Alfred L

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel α1 subunit (NaV1.1), are associated with genetic forms of epilepsy, including generalized epilepsy with febrile seizures...