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MAYER , Thomas

Last name: MAYER

First name: Thomas

May 2000 (v1)

Journal article

Metadata-only

Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia

Escayg, Andrew de Waard, Michel Lee, David

Inactivation of the subunit of the calcium channel in the mouse neurological mutant b4 lethargic results in a complexneurological disorder that includes absence epilepsy and ataxia. To determine the role of the calcium-channel b4-subunit gene CACNB4 on chromosome 2q22-23 in related human disorders, we screened for mutations in smallpedigrees...

Uploaded on: December 3, 2022