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Publications by Alastair H. MacLennan
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
Pathogenic Copy Number Variants That Affect Gene Expression Contribute to Genomic Burden in Cerebral Palsy
npj Genomic Medicine
Genetics
Molecular Biology
Related publications
Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A
npj Genomic Medicine
Genetics
Molecular Biology
Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2
Epilepsia Open
Neurology
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
American Journal of Human Genetics
Genetics
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
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
Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
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