lunes, 26 de noviembre de 2018

Epilepsy AND (genetic OR genomic) AND review - PubMed - NCBI

Epilepsy AND (genetic OR genomic) AND review - PubMed - NCBI

Health History with the words Seizure/Epilepsy circled in red

Best matches for Epilepsy AND (genetic OR genomic) AND review:

Genetic screening and diagnosis in epilepsy?Sisodiya SM et al. Curr Opin Neurol. (2015)

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Items: 1 to 20 of 2978

1.
Autonomic aspects of sudden unexpected death in epilepsy (SUDEP).
Barot N, Nei M.
Clin Auton Res. 2018 Nov 19. doi: 10.1007/s10286-018-0576-1. [Epub ahead of print] Review.

PMID:
 
30456432
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2.
POLG-related disorders and their neurological manifestations.
Rahman S, Copeland WC.
Nat Rev Neurol. 2018 Nov 19. doi: 10.1038/s41582-018-0101-0. [Epub ahead of print] Review.

PMID:
 
30451971
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3.
From molecules to medicines: the dawn of targeted therapies for genetic epilepsies.
Demarest ST, Brooks-Kayal A.
Nat Rev Neurol. 2018 Nov 17. doi: 10.1038/s41582-018-0099-3. [Epub ahead of print] Review.

PMID:
 
30448857
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4.
Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada.
Jain P, Andrade D, Donner E, Dyment D, Prasad AN, Goobie S, Boycott K, Lines M, Snead OC.
Can J Neurol Sci. 2018 Nov 13:1-7. doi: 10.1017/cjn.2018.341. [Epub ahead of print]

PMID:
 
30419982
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5.
Dentatorubral-pallidoluysian Atrophy: An Update.
Carroll LS, Massey TH, Wardle M, Peall KJ.
Tremor Other Hyperkinet Mov (N Y). 2018 Oct 1;8:577. doi: 10.7916/D81N9HST. eCollection 2018.

PMID:
 
30410817
 
Free PMC Article
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6.
Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.
SoRelle JA, Thodeson DM, Arnold S, Gotway G, Park JY.
JAMA Pediatr. 2018 Nov 5:e182302. doi: 10.1001/jamapediatrics.2018.2302. [Epub ahead of print]

PMID:
 
30398534
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7.
CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature.
Sun Y, Liu YD, Xu ZF, Kong QX, Wang YL.
World J Clin Cases. 2018 Oct 26;6(12):570-576. doi: 10.12998/wjcc.v6.i12.570.

PMID:
 
30397616
 
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8.
A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.
Unterberger I, Dobesberger J, Schober H, Krabichler B, Lamina C, Schatz U, Zschocke J, Luef G, Kotzot D, Fauth C.
Eur J Med Genet. 2018 Oct 29. pii: S1769-7212(18)30256-8. doi: 10.1016/j.ejmg.2018.10.016. [Epub ahead of print]

PMID:
 
30385235
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9.
Episodic Ataxia Type 1.
Hasan SM, D'Adamo MC.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Feb 9 [updated 2018 Nov 1].

PMID:
 
20301785
 
Free Books & Documents
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10.
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.
McLachlan F, Sires AM, Abbott CM.
Hum Mutat. 2018 Oct 29. doi: 10.1002/humu.23677. [Epub ahead of print] Review.

PMID:
 
30370994
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11.
Understanding Genotypes and Phenotypes of Voltage-Gated Sodium Channel Mutations in Epilepsy.
Zhang S, Zhu Y, Zhang Z, Tao J, Ji Y.
CNS Neurol Disord Drug Targets. 2018 Oct 26. doi: 10.2174/1871527317666181026164825. [Epub ahead of print]

PMID:
 
30370865
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12.
West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.
Shaukat Q, Hertecant J, El-Hattab AW, Ali BR, Suleiman J.
Epileptic Disord. 2018 Oct 1;20(5):401-412. doi: 10.1684/epd.2018.1005.

PMID:
 
30361190
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13.
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.
Genet Med. 2018 Oct 25. doi: 10.1038/s41436-018-0339-3. [Epub ahead of print]

PMID:
 
30356099
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14.
Brain Somatic Mutations in Epileptic Disorders.
Koh HY, Lee JH.
Mol Cells. 2018 Oct 31;41(10):881-888. doi: 10.14348/molcells.2018.0247. Epub 2018 Oct 10. Review.

PMID:
 
30352490
 
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15.
Sleep-related hypermotor epilepsy: prevalence, impact and management strategies.
Menghi V, Bisulli F, Tinuper P, Nobili L.
Nat Sci Sleep. 2018 Oct 10;10:317-326. doi: 10.2147/NSS.S152624. eCollection 2018. Review.

PMID:
 
30349413
 
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16.
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.
Agostini A, Marchetti D, Izzi C, Cocco I, Pinelli L, Accorsi P, Iascone Maria R, Giordano L.
Am J Med Genet B Neuropsychiatr Genet. 2018 Oct 22. doi: 10.1002/ajmg.b.32677. [Epub ahead of print]

PMID:
 
30345598
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17.
Correlates of Sedentary Behaviour in Adults with Intellectual Disabilities-A Systematic Review.
Oppewal A, Hilgenkamp TIM, Schäfer Elinder L, Freiberger E, Rintala P, Guerra-Balic M, Giné-Garriga M, Cuesta-Vargas A, Oviedo GR, Sansano-Nadal O, Izquierdo-Gómez R, Einarsson I, Teittinen A, Melville CA.
Int J Environ Res Public Health. 2018 Oct 17;15(10). pii: E2274. doi: 10.3390/ijerph15102274. Review.

PMID:
 
30336554
 
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18.
Lafora Disease: A Review of Molecular Mechanisms and Pathology.
Verhalen B, Arnold S, Minassian BA.
Neuropediatrics. 2018 Dec;49(6):357-362. doi: 10.1055/s-0038-1675238. Epub 2018 Oct 18.

PMID:
 
30336494
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19.
Challenges in the histopathological classification of ganglioglioma and DNT: microscopic agreement studies and a preliminary genotype-phenotype analysis.
Blümcke I, Coras R, Wefers AK, Capper D, Aronica E, Becker A, Honavar M, Stone TJ, Jacques TS, Miyata H, Mühlebner A, Pimentel J, Söylemezoğlu F, Thom M.
Neuropathol Appl Neurobiol. 2018 Oct 16. doi: 10.1111/nan.12522. [Epub ahead of print] Review.

PMID:
 
30326153
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20.
Correlation between HLA-DQB1*06:02 and narcolepsy with and without cataplexy: approving a safe and sensitive genetic test in four major ethnic groups. A systematic meta-analysis.
Capittini C, De Silvestri A, Terzaghi M, Scotti V, Rebuffi C, Pasi A, Manni R, Martinetti M, Tinelli C.
Sleep Med. 2018 Dec;52:150-157. doi: 10.1016/j.sleep.2018.08.024. Epub 2018 Sep 20. Review.

PMID:
 
30321823
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