Publications by authors named "Sam Amin"

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Deep brain stimulation in the management of movement disorders in childhood: a UK-wide cross-sectional study.
Daniel E Lumsden, Ramalakshmi Ramiah, Todd Smallbone, Will Singleton, Sam Amin, Margaret Kaminska

Arch Dis Child· October 2025

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Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey.
Sam Amin, Carol-Anne Partridge, Helen Leonard, Jenny Downs, Helen Allvin

JMIR Form Res· June 2025

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Protocol for EpiCom: A phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).
Agnies M van Eeghen, Elizabeth A Thiele, Sam Amin, Debopam Samanta, Anna C Jansen

PLoS One· June 2025

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Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency Disorder.
Mohammed Junaid, Kingsley Wong, Minna A Korolainen, Sam Amin, Jenny Downs

Pediatr Neurol· February 2025

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REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.
Eugen-Matthias Strehle, Roberta Battini, Vasantha Gowda, Alice Kuster, Sam Amin

Genet Test Mol Biomarkers· January 2025

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UK research priority setting for childhood neurological conditions.
Jill Cadwgan, Jane Goodwin, Barbara Babcock, Molly Brick, Richard Chin, Sam Amin

Dev Med Child Neurol· December 2024

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An overview of ganaxolone as a treatment for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder.
Alfie Gould, Sam Amin

Expert Rev Neurother· October 2024

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Consensus recommendations for the assessment and management of idiopathic intracranial hypertension in children and young people.
Sam Amin, Marie Monaghan, Katharine Forrest, Pooja Harijan, Vishal Mehta

Arch Dis Child· July 2024

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Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.
Sam Amin, Rikke S Møller, Angel Aledo-Serrano, Alexis Arzimanoglou, Patrick Bager

Epilepsia Open· June 2024

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Growth patterns in individuals with CDKL5 deficiency disorder.
Kingsley Wong, George Davies, Helen Leonard, Jenny Downs, Mohammed Junaid, Sam Amin

Dev Med Child Neurol· April 2024

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Response to updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.
Sam Amin, Finbar O'Callaghan

Eur J Paediatr Neurol· March 2024

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Rare epilepsy treatment: What is on the gene-code lottery list?
Sam Amin

Dev Med Child Neurol· January 2024

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Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.
Heather E Olson, Sam Amin, Nadia Bahi-Buisson, Orrin Devinsky, Eric D Marsh

Epilepsia· January 2024

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Forewords.
Sam Amin

Dev Med Child Neurol· January 2024

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De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Shenzhao Lu, Mengqi Ma, Xiao Mao, Carlos A Bacino, Joseph Jankovic, Sam Amin

Am J Hum Genet· October 2022

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Impact of facial angiofibromas in tuberous sclerosis complex and reported efficacy of available treatments.
Marie Monaghan, Pooja Takhar, Luke Langlands, Markus Knuf, Sam Amin

Front Med (Lausanne)· August 2022

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International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.
Sam Amin, Marie Monaghan, Angel Aledo-Serrano, Nadia Bahi-Buisson, Richard F Chin

Front Neurol· June 2022

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Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Elia M Pestana Knight, Sam Amin, Nadia Bahi-Buisson, Tim A Benke, J Helen Cross

Lancet Neurol· May 2022

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Intrathecal baclofen pumps in the management of hypertonia in childhood: a UK and Ireland wide survey.
Rajib Lodh, Sam Amin, Amr Ammar, Lucy Bellis, Phillip Brink, Margaret Kaminska

Arch Dis Child· December 2021

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Treatment Guidelines for Rare, Early-Onset, Treatment-Resistant Epileptic Conditions: A Literature Review on Dravet Syndrome, Lennox-Gastaut Syndrome and CDKL5 Deficiency Disorder.
Richard F Chin, Ana Mingorance, Benjamin Ruban-Fell, Isabelle Newell, Jenni Evans, Sam Amin

Front Neurol· October 2021

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Sam Amin, Benjamin J Halliday

Am J Hum Genet· June 2021

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The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial.
Sam Amin, Andrew A Mallick, Hannah Edwards, Mario Cortina-Borja, Matthew Laugharne

EClinicalMedicine· February 2021

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Prophylactic Antiepileptic Treatment in Tuberous Sclerosis.
Prerna Choudhury, Robert Spaull, Sam Amin, Andrew A Mallick, Jayesh S Patel

Pediatr Neurol· September 2020

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Quality of life in patients with Tuberous Sclerosis Complex (TSC).
Sam Amin, Andrew A Mallick, Andrew Lux, Finbar O'Callaghan

Eur J Paediatr Neurol· November 2019

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Severity Assessment in CDKL5 Deficiency Disorder.
Scott Demarest, Elia M Pestana-Knight, Heather E Olson, Jenny Downs, Eric D Marsh, Sam Amin

Pediatr Neurol· August 2019

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