Search Results - "Amin, Sam"

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

“…Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS) and CDKL5 deficiency disorder (CDD) are rare epileptic conditions, characterised by drug-resistant…”
Get full text

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

“…Tuberous Sclerosis Complex (TSC) is a genetic condition which leads to a loss of inhibition of cellular growth. Facial angiofibromas (FAs) are hamartomatous…”
Get full text

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder by Amin, Sam, Monaghan, Marie, Aledo-Serrano, Angel, Bahi-Buisson, Nadia, Chin, Richard F, Clarke, Angus J, Cross, J Helen, Demarest, Scott, Devinsky, Orrin, Downs, Jenny, Pestana Knight, Elia M, Olson, Heather, Partridge, Carol-Anne, Stuart, Graham, Trivisano, Marina, Zuberi, Sameer, Benke, Tim A

“…CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between…”
Get full text

The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial by Amin, Sam, Mallick, Andrew A, Edwards, Hannah, Cortina-Borja, Mario, Laugharne, Matthew, Likeman, Marcus, O'Callaghan, Finbar J.K.

“…Tuberous Sclerosis Complex (TSC) is a genetic disorder characterised by the development of benign tumours secondary to loss of inhibitory regulation of the…”
Get full text

Rare epilepsy treatment: What is on the gene‐code lottery list? by Amin, Sam

Get full text

Forewords by Amin, Sam

Get full text

Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey by Amin, Sam, Møller, Rikke S., Aledo‐Serrano, Angel, Arzimanoglou, Alexis, Bager, Patrick, Jóźwiak, Sergiusz, Kluger, Gerhard Josef, López‐Cabeza, Sandra, Nabbout, Rima, Partridge, Carol‐Anne, Schubert‐Bast, Susanne, Specchio, Nicola, Kälviäinen, Reetta

“…Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The…”
Get full text

The outcome of surgical management of subependymal giant cell astrocytoma in tuberous sclerosis complex by Amin, Sam, Carter, Michael, Edwards, Richard J, Pople, Ian, Aquilina, Kristian, Merrifield, Jane, Osborne, John P, O'Callaghan, Finbar J.K

“…Abstract Objectives The indications for surgery and outcomes of patients who underwent surgical removal of subependymal giant cell astrocytomas (SEGAs) in our…”
Get full text

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

Get full text

The journey of metformin from glycaemic control to mTOR inhibition and the suppression of tumour growth by Amin, Sam, Lux, Andrew, O'Callaghan, Finbar

“…Our knowledge of the effect of metformin on human health is increasing. In addition to its ability to improve the control of hyperglycaemia, metformin has been…”
Get full text

Causes of mortality in individuals with tuberous sclerosis complex by Amin, Sam, Lux, Andrew, Calder, Nuala, Laugharne, Matthew, Osborne, John, O'callaghan, Finbar

“…Aim The causes of death in patients with tuberous sclerosis complex (TSC) have rarely been studied, with only one published account, which was reported from…”
Get full text

Effect of Concomitant Antiseizure Medications on the Safety and Efficacy of Ganaxolone for the Treatment of Seizures Associated with CDKL5 Deficiency Disorder (CDD): Findings from the Phase 3 MARIGOLD Study (P8-1.006) by Flatt, John, Amin, Sam, Rajaraman, Rajsekar, Aimetti, Alex, Hulihan, Joseph, Perry, Scott

“…Abstract only…”
Get full text

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

“…Aim To compare growth in individuals with cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of…”
Get full text

99 Opportunities to improve screening programmes identifying patients with aromatic L-amino acid decarboxylase deficiency (AADCd) in the UK by Gowda, Vasantha, Amin, Sam, Monaghan, Marie, De Goede, Christian, Eugen-Matthias Strehle, Taylor, Micheal, Fox, Emily

“…ObjectiveAromatic L-amino acid decarboxylase deficiency (AADCd) is a rare neurometabolic disorder resulting from variants in the dopa decarboxylase (DDC) gene…”
Get full text

194 Outcomes for patients with cerebral palsy and tracheostomy: use of a novel method to investigate rare conditions and procedures by Dayalan, Lusyan, Monaghan, Marie, Carlisle, George, Greenwood, Rosemary, Gaskin, Julian, Amin, Sam

“…ObjectiveIn a recent review of life expectancy for those with severe impairment with cerebral palsy (CP), Rosenthal’s conclusions stated, ‘tracheostomies…”
Get full text

Behavioral outcomes of treatment with cannabidiol oral solution in individuals with seizures associated with tuberous sclerosis complex: Design of an ongoing phase 4 trial (EPICOM) by Van Eeghen, Agnies, Thiele, Elizabeth, Amin, Sam, Samanta, Debopam, Stevens, Joanne, Moore-Ramdin, Lisa, De Vries, Petrus

Get full text

Ganaxolone Significantly Reduces Major Motor Seizures Associated with CDKL5 Deficiency Disorder: A Randomized, Double-blind, Placebo-Controlled Phase 3 Study (S13.009) by Pestana-Knight, Elia, Amin, Sam, Benke, Timothy, Cross, J. Helen, Olson, Heather, Fleming, Thomas, Demarest, Scott, Specchio, Nicola

“…Abstract only…”
Get full text

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

“…The quality of life (QoL) of patients with Tuberous Sclerosis Complex (TSC) has not been studied before. We aimed to investigate the impact of the disease…”
Get full text

Consensus recommendations for the assessment and management of idiopathic intracranial hypertension in children and young people by Amin, Sam, Monaghan, Marie, Forrest, Katharine, Harijan, Pooja, Mehta, Vishal, Moran, Matthew, Mukhtyar, Bina, Muthusamy, Brinda, Parker, Alasdair, Prabhakar, Prab, Whitehouse, William P, Krishnakumar, Deepa

“…BackgroundIdiopathic intracranial hypertension (IIH) is a potentially disabling condition. There is a lack of evidence and national guidance on how to diagnose…”
Get full text

Pharmacological management of abnormal tone and movement in cerebral palsy by Lumsden, Daniel E, Crowe, Belinda, Basu, Anna, Amin, Sam, Devlin, Anita, DeAlwis, Yasmin, Kumar, Ram, Lodh, Rajib, Lundy, Claire T, Mordekar, Santosh R, Smith, Martin, Cadwgan, Jill

“…BackgroundThe evidence base to guide the pharmacological management of tone and abnormal movements in cerebral palsy (CP) is limited, as is an understanding of…”
Get full text