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Year Number of Results
1995 4
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2003 3
2004 1
2006 3
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2012 2
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35 results

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Page 1
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. ...External consultants reviewed the guidelines. Using these methods 70 statements were …
If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disabili …
Recent advances in pharmacotherapy for epilepsy.
Pong AW, Xu KJ, Klein P. Pong AW, et al. Curr Opin Neurol. 2023 Apr 1;36(2):77-85. doi: 10.1097/WCO.0000000000001144. Epub 2023 Feb 10. Curr Opin Neurol. 2023. PMID: 36762638 Review.
PURPOSE OF REVIEW: Epilepsy affects 70 million people worldwide and is a significant cause of morbidity and early mortality. ...SUMMARY: The repertoire of available and developmental therapies for epilepsy is rapidly expanding, and now includes disease …
PURPOSE OF REVIEW: Epilepsy affects 70 million people worldwide and is a significant cause of morbidity and early mortality. . …
Current and future pharmacotherapy options for drug-resistant epilepsy.
Elkommos S, Mula M. Elkommos S, et al. Expert Opin Pharmacother. 2022 Dec;23(18):2023-2034. doi: 10.1080/14656566.2022.2128670. Epub 2022 Sep 27. Expert Opin Pharmacother. 2022. PMID: 36154780 Review.
INTRODUCTION: Epilepsy is a common neurological condition, affecting over 70 million individuals worldwide. ...For adult focal epilepsies, padsevonil and carisbamate are at a more advanced Phase III stage of clinical development followed by compounds at Phase II lik …
INTRODUCTION: Epilepsy is a common neurological condition, affecting over 70 million individuals worldwide. ...For adult focal …
Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.
Veroniki AA, Rios P, Cogo E, Straus SE, Finkelstein Y, Kealey R, Reynen E, Soobiah C, Thavorn K, Hutton B, Hemmelgarn BR, Yazdi F, D'Souza J, MacDonald H, Tricco AC. Veroniki AA, et al. BMJ Open. 2017 Jul 20;7(7):e017248. doi: 10.1136/bmjopen-2017-017248. BMJ Open. 2017. PMID: 28729328 Free PMC article. Review.
PRIMARY AND SECONDARY OUTCOME MEASURES: Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit hyperactivity disorder, language delay, neonatal seizures, psychomotor developmental delay and social impairment were secondary outcom …
PRIMARY AND SECONDARY OUTCOME MEASURES: Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit h …
Infantile spasms.
Zupanc ML. Zupanc ML. Expert Opin Pharmacother. 2003 Nov;4(11):2039-48. doi: 10.1517/14656566.4.11.2039. Expert Opin Pharmacother. 2003. PMID: 14596657 Review.
There are many causes of infantile spasms, including tuberous sclerosis, hypoxic-ischaemic injury, congenital infectious diseases, inborn errors of metabolism, malformations of cortical development, genetic syndromes such as Aicardi's syndrome and chromosomal abnorm …
There are many causes of infantile spasms, including tuberous sclerosis, hypoxic-ischaemic injury, congenital infectious diseases, in …
Medical treatment of tuberous sclerosis-related epilepsy.
Uliel-Sibony S, Chernuha V, Meirson H, Fattal-Valevski A. Uliel-Sibony S, et al. Childs Nerv Syst. 2020 Oct;36(10):2511-2517. doi: 10.1007/s00381-020-04772-7. Epub 2020 Aug 22. Childs Nerv Syst. 2020. PMID: 32829444 Review.
In up to 70% of the cases, the epilepsy is refractory and usually associated with significant behavioral as well as developmental consequences. ...In this review, we present an update on the pharmacological treatments in tuberous sclerosis-related epilepsy …
In up to 70% of the cases, the epilepsy is refractory and usually associated with significant behavioral as well as develop …
Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature.
Salvati A, Bonaventura E, Sesso G, Pasquariello R, Sicca F. Salvati A, et al. Seizure. 2021 Oct;91:425-436. doi: 10.1016/j.seizure.2021.07.020. Epub 2021 Jul 21. Seizure. 2021. PMID: 34325301 Free article. Review.
To date, there is no systematic characterization of epilepsy in LAMA2-RD, and its impact on neurodevelopment and on the clinical course remains poorly established. ...This systematic review helps to show that epilepsy in LAMA2-RD may be more than an ancillary manife …
To date, there is no systematic characterization of epilepsy in LAMA2-RD, and its impact on neurodevelopment and on the clinical cour …
Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.
Patel J, Mercimek-Mahmutoglu S. Patel J, et al. Indian J Pediatr. 2016 Oct;83(10):1164-74. doi: 10.1007/s12098-015-1979-9. Epub 2016 Jan 29. Indian J Pediatr. 2016. PMID: 26821542 Review.
Epilepsy associated with global developmental delay and cognitive dysfunction is defined as epileptic encephalopathy. ...Knowledge of underlying genetic cause will provide novel insights into the pathogenesis of epileptic encephalopathy a …
Epilepsy associated with global developmental delay and cognitive dysfunction is defined as epileptic encephalopathy …
Multi-factorial modulation of hemispheric specialization and plasticity for language in healthy and pathological conditions: A review.
Tzourio-Mazoyer N, Perrone-Bertolotti M, Jobard G, Mazoyer B, Baciu M. Tzourio-Mazoyer N, et al. Cortex. 2017 Jan;86:314-339. doi: 10.1016/j.cortex.2016.05.013. Epub 2016 Jun 7. Cortex. 2017. PMID: 27321148 Review.
This review synthesizes anatomo-functional variability of language hemispheric representation and specialization (hemispheric specialization for language, HSL) as well as its modulation by several variables (demographic, anatomical, developmental, genetic, clinical, and ps …
This review synthesizes anatomo-functional variability of language hemispheric representation and specialization (hemispheric specialization …
Trends and hotspots in gene research of epilepsy in children: A review and bibliometric analysis from 2010 to 2022.
Tian Y, Zhang X, Chen H, Li C, Niu L, Fu Q, Rong P, Ma R. Tian Y, et al. Medicine (Baltimore). 2023 Jul 28;102(30):e34417. doi: 10.1097/MD.0000000000034417. Medicine (Baltimore). 2023. PMID: 37505157 Free PMC article. Review.
BACKGROUND: About 70% to 80% of epilepsy cases are related to genetic factors. Genetic research has revealed the genetic etiology and molecular mechanisms of childhood epilepsy, which has increased our understanding of childhood epilepsy. ...Burst keyw …
BACKGROUND: About 70% to 80% of epilepsy cases are related to genetic factors. Genetic research has revealed the genetic etiol …
35 results