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Publications by Sidney M. Gospe
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
Related publications
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
A Novel CACNA1A Nonsense Variant in a Patient Presenting With Paroxysmal Exertion-Induced Dyskinesia
Journal of the Neurological Sciences
Neurology
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
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
De Novo Pathogenic DNM1L Variant in a Patient Diagnosed With Atypical Hereditary Sensory and Autonomic Neuropathy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
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
Epileptic Encephalopathy
Journal of Child Neurology
Child Health
Neurology
Pediatrics
Perinatology
