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Publications by Adam Frankish
Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A
npj Genomic Medicine
Genetics
Molecular Biology
Expert Curation of the Human and Mouse Olfactory Receptor Gene Repertoires Identifies Conserved Coding Regions Split Across Two Exons
BMC Genomics
Biotechnology
Genetics
Related publications
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
Early Infantile SCN1A Epileptic Encephalopathy: Expanding the Genotype-Phenotype Correlations
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2
Epilepsia Open
Neurology
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
De Novo EIF2AK1 and EIF2AK2 Variants Are Associated With Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant
Pediatric Neurology
Child Health
Developmental Neuroscience
Pediatrics
Perinatology
Neurology
Epileptic Encephalopathy and Cerebellar Atrophy Resulting From Compound Heterozygous CACNA2D2 Variants
Case Reports in Genetics
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics