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Literature citations Results

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace R.H., Hodgson B.L., Grinton B.E., Gardiner R.M., Robinson R., Rodriguez-Casero V., Sadleir L., Morgan J., Harkin L.A., Dibbens L.M. et al.

Neurology 61:765-769(2003) · UniProtKB (1) · Mapped (23)

SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.

Herlenius E., Heron S.E., Grinton B.E., Keay D., Scheffer I.E., Mulley J.C., Berkovic S.F.

Epilepsia 48:1138-1142(2007) · UniProtKB (1) · Mapped (3)

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.

Scheffer I.E., Grinton B.E., Heron S.E., Kivity S., Afawi Z., Iona X., Goldberg-Stern H., Kinali M., Andrews I., Guerrini R. et al.

Neurology 79:2104-2108(2012) · Mapped (1)

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Heron S.E., Grinton B.E., Kivity S., Afawi Z., Zuberi S.M., Hughes J.N., Pridmore C., Hodgson B.L., Iona X., Sadleir L.G. et al.

Am. J. Hum. Genet. 90:152-160(2012) · UniProtKB (2)

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

Grinton B.E., Heron S.E., Pelekanos J.T., Zuberi S.M., Kivity S., Afawi Z., Williams T.C., Casalaz D.M., Yendle S., Linder I. et al.

Epilepsia 56:1071-1080(2015) · UniProtKB (3)

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

Berkovic S.F., Heron S.E., Giordano L., Marini C., Guerrini R., Kaplan R.E., Gambardella A., Steinlein O.K., Grinton B.E., Dean J.T. et al.

Ann. Neurol. 55:550-557(2004) · UniProtKB (1)

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.

Puskarjov M., Seja P., Heron S.E., Williams T.C., Ahmad F., Iona X., Oliver K.L., Grinton B.E., Vutskits L., Scheffer I.E. et al.

EMBO Rep. 15:723-729(2014) · UniProtKB (1) · Mapped (23)

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