CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

Scott Demarest, Heather E. Olson, Angela Moss, +11

Epilepsia

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero, +51

Brain

Treatment of Mitochondrial Disorders

Sreenivas Avula, Sumit Parikh, Scott Demarest, +2

Current Treatment Options in Neurology

Mitochondrial MyopathyTranslational MedicineMitochondrial TransplantationMitochondrial BiogenesisMitochondrial Function +5

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac, +50

Brain

The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium

Scott Demarest, Renée A. Shellhaas, William D. Gaillard, +19

Epilepsia

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

Zhan Yun Lim, Kingsley Wong, Jenny Downs, +3

Epilepsy Research

Neuromodulation (Medicine)Cdkl5 Deficiency DisorderNeurophysiologyRefractory EpilepsyNeurology +4

Exploring genotype‐phenotype relationships in the <scp>CDKL5</scp> deficiency disorder using an international dataset

Conor I. MacKay, Kingsley Wong, Scott Demarest, +3

Clinical Genetics

Brain DevelopmentGeneticsMotor DevelopmentGenetic EpidemiologyPathology +20

Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

Helen Leonard, Mohammed Junaid, Kingsley Wong, +2

Epilepsy Research

Quality Of LifeSevere DevelopmentalEpileptic EncephalopathyNeurological DisorderPediatrics +4

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder

Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, +16

Journal of Neurodevelopmental Disorders

Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition

Elena Arystarkhova, Ihtsham Haq, Timothy Luebbert, +10

Neurobiology of Disease

GeneticsSynaptic TransmissionMolecular BiologyNeurochemical BiomarkersMolecular Genetics +28