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1995 2
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2005 1
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2012 1
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2015 4
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31 results

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Page 1
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.
METHODS: Undiagnosed individuals with ATP1A3 variants were identified within the cohort of the Deciphering Developmental Disorders study with additional cases contributed by collaborators internationally. ...Permanent neurologic features were common including microcephaly …
METHODS: Undiagnosed individuals with ATP1A3 variants were identified within the cohort of the Deciphering Developmental Disorders st …
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.
Epileptic women who did not receive AEDs during pregnancy or breast feeding served as the control group. PRIMARY AND SECONDARY OUTCOME MEASURES: Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit hyperactivity disorder, langu …
Epileptic women who did not receive AEDs during pregnancy or breast feeding served as the control group. PRIMARY AND SECONDARY OUTCOM …
Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe.
Cardenal-Muñoz E, Auvin S, Villanueva V, Cross JH, Zuberi SM, Lagae L, Aibar JÁ. Cardenal-Muñoz E, et al. Epilepsia Open. 2022 Mar;7(1):11-26. doi: 10.1002/epi4.12569. Epub 2021 Dec 19. Epilepsia Open. 2022. PMID: 34882995 Free PMC article. Review.
Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic encephalopathy affecting 1 in 16 000 live births and characterized by a drug-resistant epilepsy, cognitive, psychomotor, and language impairment, and behavioral disorders. …
Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic encephalopathy affecting 1 in 16 000 li …
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. ...We also report the first inherited variant (p.Arg583*). KCNB1-related encephalopathies encompass a wide spectrum of neurod …
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental dis …
RARS1-related developmental and epileptic encephalopathy.
Wan L, Yu D, Li Z, Liu X, Liang Y, Yan H, Zhu G, Zhang B, Yang G. Wan L, et al. Epilepsia Open. 2023 Sep;8(3):867-876. doi: 10.1002/epi4.12751. Epub 2023 May 5. Epilepsia Open. 2023. PMID: 37186453 Free PMC article. Review.
OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with central nervous system (CNS) manifestations, such as hypomyelinating leukodystrophy-9 and developmental and epileptic encephalopa …
OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with centra …
Epilepsy-related clinical characteristics and mortality: a systematic review and meta-analysis.
Nevalainen O, Ansakorpi H, Simola M, Raitanen J, Isojärvi J, Artama M, Auvinen A. Nevalainen O, et al. Neurology. 2014 Nov 18;83(21):1968-77. doi: 10.1212/WNL.0000000000001005. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339211 Review.
Among incident cases, idiopathic epilepsies did not associate with materially increased mortality (1.29, 0.75-2.20; 4 studies), whereas mortality was almost twofold in cryptogenic epilepsy (1.75, 1.20-2.54; 5 studies), and highly elevated in patients with symptomati …
Among incident cases, idiopathic epilepsies did not associate with materially increased mortality (1.29, 0.75-2.20; 4 studies), where …
Current treatments of epilepsy.
Nadkarni S, LaJoie J, Devinsky O. Nadkarni S, et al. Neurology. 2005 Jun 28;64(12 Suppl 3):S2-11. doi: 10.1212/wnl.64.12_suppl_3.s2. Neurology. 2005. PMID: 15994220 Review.
In this non-refractory group, many patients have medication side effects and occasional seizures. Approximately 30% of patients with partial epilepsy and 25% of patients with generalized epilepsy are not well controlled on medications. ...Surgery and the vagus nerve …
In this non-refractory group, many patients have medication side effects and occasional seizures. Approximately 30% of patients with partial …
Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.
Mastrangelo M. Mastrangelo M. Metab Brain Dis. 2021 Jan;36(1):29-43. doi: 10.1007/s11011-020-00635-x. Epub 2020 Oct 23. Metab Brain Dis. 2021. PMID: 33095372 Review.
Neurotransmitter dysfunctions could also result from the impairment of neuronal receptors, intracellular signaling, vesicle release or other synaptic abnormalities. Epilepsy is the main clinical hallmark in some of these diseases (e.g. disorders of GABA metabolism, …
Neurotransmitter dysfunctions could also result from the impairment of neuronal receptors, intracellular signaling, vesicle release or other …
A neuropsychological model for the pre-surgical evaluation of children with focal-onset epilepsy: An integrated approach.
Gonzalez LM, Wrennall JA. Gonzalez LM, et al. Seizure. 2020 Apr;77:29-39. doi: 10.1016/j.seizure.2018.12.013. Epub 2019 Feb 16. Seizure. 2020. PMID: 30797670 Free article. Review.
These factors include a developmental, epilepsy, psychological and cognitive dimension, together with family and social context and intrinsic factors. ...The aim of this review is to provide a neuropsychological framework to enhance and support clinical decision-mak …
These factors include a developmental, epilepsy, psychological and cognitive dimension, together with family and social contex …
Epilepsy and autism: is there a special relationship?
Berg AT, Plioplys S. Berg AT, et al. Epilepsy Behav. 2012 Mar;23(3):193-8. doi: 10.1016/j.yebeh.2012.01.015. Epub 2012 Feb 29. Epilepsy Behav. 2012. PMID: 22381386 Free PMC article. Review.
Increasingly, there has been an interest in the association between epilepsy and autism. The high frequency of autism in some of the early-onset developmental encephalopathic epilepsies is frequently cited as evidence of the relationship between autism and epilep …
Increasingly, there has been an interest in the association between epilepsy and autism. The high frequency of autism in some of the …
31 results