Pages that link to "Q30889630"

The following pages link to A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2. (Q30889630):

Displaying 21 items.

• The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy (Q24338211) (← links)
• UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family (Q36279733) (← links)
• Familial cortical myoclonic tremor with epilepsy and cerebellar changes: description of a new pathology case and review of the literature (Q36603291) (← links)
• The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. (Q37325058) (← links)
• Milestones in tremor research (Q37882599) (← links)
• Milestones in myoclonus (Q37882604) (← links)
• A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype (Q39421202) (← links)
• Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy (Q40940477) (← links)
• Autosomal Dominant Cortical Tremor, Myoclonus, and Epilepsy Syndrome mimicking Juvenile Myoclonic Epilepsy (Q42292980) (← links)
• Autosomal dominant cortical tremor, myoclonus, and epilepsy: is the origin in the cerebellum? Editorial (Q48341145) (← links)
• Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree (Q48391303) (← links)
• Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review (Q49191481) (← links)
• Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family. (Q50244740) (← links)
• Clinical anticipation in Japanese families of benign adult familial myoclonus epilepsy (Q50261695) (← links)
• Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. (Q50265207) (← links)
• Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy. (Q50279006) (← links)
• Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype (Q50280469) (← links)
• Increased cortical hyperexcitability and exaggerated myoclonus with aging in benign adult familial myoclonus epilepsy (Q57770188) (← links)
• Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes (Q57970879) (← links)
• Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families (Q80579727) (← links)
• Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (Q90999050) (← links)