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Items: 1 to 50 of 199

1.

The epileptology of alternating hemiplegia of childhood.

Uchitel J, Helseth A, Prange L, McLean M, Ghusayni R, Sachdev M, Hunanyan A, Mikati MA.

Neurology. 2019 Sep 4. pii: 10.1212/WNL.0000000000008159. doi: 10.1212/WNL.0000000000008159. [Epub ahead of print]

PMID:
31484714
2.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM; Regeneron Genetics Center, Torti E, Lee JA, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C.

Eur J Hum Genet. 2019 Aug 8. doi: 10.1038/s41431-019-0487-1. [Epub ahead of print]

PMID:
31395947
3.

The onset of pediatric refractory status epilepticus is not distributed uniformly during the day.

Sánchez Fernández I, Gaínza-Lein M, Abend NS, Amengual-Gual M, Anderson A, Arya R, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Davis Gaillard W, Glauser TA, Goldstein J, Goodkin HP, Guerriero RM, Hecox K, Jackson M, Kapur K, Kelley SA, Kossoff EHW, Lai YC, McDonough TL, Mikati MA, Morgan LA, Novotny EJ, Ostendorf AP, Payne ET, Peariso K, Piantino J, Riviello JJ Jr, Sannagowdara K, Stafstrom CE, Tasker RC, Tchapyjnikov D, Topjian AA, Vasquez A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group.

Seizure. 2019 Aug;70:90-96. doi: 10.1016/j.seizure.2019.06.017. Epub 2019 Jun 18.

PMID:
31323566
4.

Novel therapies for epilepsy in the pipeline.

Mesraoua B, Deleu D, Kullmann DM, Shetty AK, Boon P, Perucca E, Mikati MA, Asadi-Pooya AA.

Epilepsy Behav. 2019 Aug;97:282-290. doi: 10.1016/j.yebeh.2019.04.042. Epub 2019 Jul 6. Review.

PMID:
31284159
5.

The expanding spectrum of ATP1A3 related disease.

Fernandes C, Mikati MA.

Eur J Paediatr Neurol. 2019 May;23(3):345-346. doi: 10.1016/j.ejpn.2019.05.007. No abstract available.

PMID:
31178018
6.

Electroencephalographic Reporting for Refractory Status Epilepticus.

Sansevere AJ, Arya R, Sánchez Fernández I, Gaillard WD, Tasker RC, Lai YC, Anderson AE, Tchapyjnikov D, Chapman KE, Brenton JN, Carpenter JL, Gaínza-Lein M, Goldstein JL, Goodkin HP, Jackson MC, Kapur K, Mikati MA, Peariso K, Glauser TA, Topjian AA, Wainwright M, Wilfong AA, Williams KL, Loddenkemper T, Abend NS; Pediatric Status Epilepticus Research Group (pSERG).

J Clin Neurophysiol. 2019 Sep;36(5):365-370. doi: 10.1097/WNP.0000000000000595.

PMID:
31166226
7.

Corrigendum to "Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature" [Seizure 55 (February) (2018) 1-3].

Abdelnour E, Gallentine W, McDonald M, Sachdev M, Jiang YH, Mikati MA.

Seizure. 2019 Jul;69:305. doi: 10.1016/j.seizure.2019.04.014. Epub 2019 May 6. No abstract available.

PMID:
31072785
8.

Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.

Kansagra S, Ghusayni R, Kherallah B, Gunduz T, McLean M, Prange L, Kravitz RM, Mikati MA.

J Clin Sleep Med. 2019 Jan 15;15(1):65-70. doi: 10.5664/jcsm.7572.

9.

Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood.

Jasien JM, Bonner M, D'alli R, Prange L, Mclean M, Sachdev M, Uchitel J, Ricano J, Smith B, Mikati MA.

Dev Med Child Neurol. 2019 May;61(5):547-554. doi: 10.1111/dmcn.14077. Epub 2018 Oct 26.

PMID:
30362107
10.

MRI-guided laser interstitial thermal therapy in an infant with tuberous sclerosis: technical case report.

Hooten KG, Werner K, Mikati MA, Muh CR.

J Neurosurg Pediatr. 2018 Sep 28;23(1):92-97. doi: 10.3171/2018.6.PEDS1828.

PMID:
30265228
11.

Hospital Emergency Treatment of Convulsive Status Epilepticus: Comparison of Pathways From Ten Pediatric Research Centers.

Vasquez A, Gaínza-Lein M, Sánchez Fernández I, Abend NS, Anderson A, Brenton JN, Carpenter JL, Chapman K, Clark J, Gaillard WD, Glauser T, Goldstein J, Goodkin HP, Lai YC, Loddenkemper T, McDonough TL, Mikati MA, Nayak A, Payne E, Riviello J, Tchapyjnikov D, Topjian AA, Wainwright MS, Tasker RC; Pediatric Status Epilepticus Research Group (pSERG).

Pediatr Neurol. 2018 Sep;86:33-41. doi: 10.1016/j.pediatrneurol.2018.06.004. Epub 2018 Jul 11.

12.

Novel E815K knock-in mouse model of alternating hemiplegia of childhood.

Helseth AR, Hunanyan AS, Adil S, Linabarger M, Sachdev M, Abdelnour E, Arehart E, Szabo M, Richardson J, Wetsel WC, Hochgeschwender U, Mikati MA.

Neurobiol Dis. 2018 Nov;119:100-112. doi: 10.1016/j.nbd.2018.07.028. Epub 2018 Jul 30.

PMID:
30071271
13.

Mechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction.

Hunanyan AS, Helseth AR, Abdelnour E, Kherallah B, Sachdev M, Chung L, Masoud M, Richardson J, Li Q, Nadler JV, Moore SD, Mikati MA.

Epilepsia. 2018 Jul;59(7):1455-1468. doi: 10.1111/epi.14441. Epub 2018 Jun 11.

14.

Efficacy and safety of ketogenic diet for treatment of pediatric convulsive refractory status epilepticus.

Arya R, Peariso K, Gaínza-Lein M, Harvey J, Bergin A, Brenton JN, Burrows BT, Glauser T, Goodkin HP, Lai YC, Mikati MA, Fernández IS, Tchapyjnikov D, Wilfong AA, Williams K, Loddenkemper T; pediatric Status Epilepticus Research Group (pSERG).

Epilepsy Res. 2018 Aug;144:1-6. doi: 10.1016/j.eplepsyres.2018.04.012. Epub 2018 Apr 27.

PMID:
29727818
15.

Visual hallucinations: A novel complication after hemispherectomy.

Vanags J, Sachdev M, Grant G, Mikati MA.

Epilepsy Behav Case Rep. 2017 Oct 2;9:51-53. doi: 10.1016/j.ebcr.2017.09.005. eCollection 2018.

16.

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AMR, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HGW, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL.

Ann Neurol. 2018 Jun;83(6):1133-1146. doi: 10.1002/ana.25243. Epub 2018 May 16.

17.

Factors affecting child development assessed by the Ages and Stages Questionnaire (ASQ) in an Arabic speaking population.

Sinno D, Tamim H, Faytrouni F, Mikati MA, Charafeddine L.

Early Hum Dev. 2018 May;120:61-66. doi: 10.1016/j.earlhumdev.2018.04.002. Epub 2018 Apr 12. No abstract available.

PMID:
29656172
18.

Factors associated with treatment delays in pediatric refractory convulsive status epilepticus.

Sánchez Fernández I, Gaínza-Lein M, Abend NS, Anderson AE, Arya R, Brenton JN, Carpenter JL, Chapman KE, Clark J, Gaillard WD, Glauser TA, Goldstein JL, Goodkin HP, Helseth AR, Jackson MC, Kapur K, Lai YC, McDonough TL, Mikati MA, Nayak A, Peariso K, Riviello JJ Jr, Tasker RC, Tchapyjnikov D, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG).

Neurology. 2018 May 8;90(19):e1692-e1701. doi: 10.1212/WNL.0000000000005488. Epub 2018 Apr 11.

19.

Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.

Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT.

Epileptic Disord. 2018 Feb 1;20(1):30-34. doi: 10.1684/epd.2018.0954.

20.

Association of Time to Treatment With Short-term Outcomes for Pediatric Patients With Refractory Convulsive Status Epilepticus.

Gaínza-Lein M, Sánchez Fernández I, Jackson M, Abend NS, Arya R, Brenton JN, Carpenter JL, Chapman KE, Gaillard WD, Glauser TA, Goldstein JL, Goodkin HP, Kapur K, Mikati MA, Peariso K, Tasker RC, Tchapyjnikov D, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group.

JAMA Neurol. 2018 Apr 1;75(4):410-418. doi: 10.1001/jamaneurol.2017.4382.

21.

Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature.

Abdelnour E, Gallentine W, McDonald M, Sachdev M, Jiang YH, Mikati MA.

Seizure. 2018 Feb;55:1-3. doi: 10.1016/j.seizure.2017.11.017. Epub 2017 Dec 23. Review. Erratum in: Seizure. 2019 Jul;69:305.

22.

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M; Deciphering Developmental Disorders Study, Fliedner A, Gregor A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21.

23.

Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature.

Tchapyjnikov D, Mikati MA.

Neurologist. 2018 Jan;23(1):17-18. doi: 10.1097/NRL.0000000000000168. Review.

PMID:
29266039
24.

Effect of Autologous Cord Blood Infusion on Motor Function and Brain Connectivity in Young Children with Cerebral Palsy: A Randomized, Placebo-Controlled Trial.

Sun JM, Song AW, Case LE, Mikati MA, Gustafson KE, Simmons R, Goldstein R, Petry J, McLaughlin C, Waters-Pick B, Chen LW, Wease S, Blackwell B, Worley G, Troy J, Kurtzberg J.

Stem Cells Transl Med. 2017 Dec;6(12):2071-2078. doi: 10.1002/sctm.17-0102. Epub 2017 Oct 28.

25.

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

Griffin NG, Cronin KD, Walley NM, Hulette CM, Grant GA, Mikati MA, LaBreche HG, Rehder CW, Allen AS, Crino PB, Heinzen EL.

Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: a001735. doi: 10.1101/mcs.a001735. Print 2017 Sep.

26.

Novel clinical manifestations in patients with KCNA2 mutations.

Sachdev M, Gaínza-Lein M, Tchapyjnikov D, Jiang YH, Loddenkemper T, Mikati MA.

Seizure. 2017 Oct;51:74-76. doi: 10.1016/j.seizure.2017.07.018. Epub 2017 Aug 5.

27.

Epilepsy in neurofibromatosis type 1.

Pecoraro A, Arehart E, Gallentine W, Radtke R, Smith E, Pizoli C, Kansagra S, Abdelnour E, McLendon R, Mikati MA.

Epilepsy Behav. 2017 Aug;73:137-141. doi: 10.1016/j.yebeh.2017.05.011. Epub 2017 Jul 18.

PMID:
28633092
28.

Motor function domains in alternating hemiplegia of childhood.

Masoud M, Gordon K, Hall A, Jasien J, Lardinois K, Uchitel J, Mclean M, Prange L, Wuchich J, Mikati MA.

Dev Med Child Neurol. 2017 Aug;59(8):822-828. doi: 10.1111/dmcn.13443. Epub 2017 May 25.

29.

Diagnosis and Treatment of Alternating Hemiplegia of Childhood.

Masoud M, Prange L, Wuchich J, Hunanyan A, Mikati MA.

Curr Treat Options Neurol. 2017 Feb;19(2):8. doi: 10.1007/s11940-017-0444-7. Review.

PMID:
28337648
30.

Managing Lafora body disease with vagal nerve stimulation.

Mikati MA, Tabbara F.

Epileptic Disord. 2017 Mar 1;19(1):82-86. doi: 10.1684/epd.2017.0892.

31.

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR.

Epilepsia. 2017 Mar;58(3):436-445. doi: 10.1111/epi.13676. Epub 2017 Jan 31.

32.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V.

Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26.

33.

Refractory status epilepticus in children with and without prior epilepsy or status epilepticus.

Sánchez Fernández I, Jackson MC, Abend NS, Arya R, Brenton JN, Carpenter JL, Chapman KE, Gaillard WD, Gaínza-Lein M, Glauser TA, Goldstein JL, Goodkin HP, Helseth A, Kapur K, McDonough TL, Mikati MA, Peariso K, Riviello J Jr, Tasker RC, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; pediatric Status Epilepticus Research Group (pSERG).

Neurology. 2017 Jan 24;88(4):386-394. doi: 10.1212/WNL.0000000000003550. Epub 2016 Dec 23.

34.

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

Millichap JJ, Miceli F, De Maria M, Keator C, Joshi N, Tran B, Soldovieri MV, Ambrosino P, Shashi V, Mikati MA, Cooper EC, Taglialatela M.

Epilepsia. 2017 Jan;58(1):e10-e15. doi: 10.1111/epi.13601. Epub 2016 Nov 9.

35.

Current and Emerging Therapies of Severe Epileptic Encephalopathies.

Hani AJ, Mikati MA.

Semin Pediatr Neurol. 2016 May;23(2):180-6. doi: 10.1016/j.spen.2016.06.001. Epub 2016 Jun 3. Review.

PMID:
27544475
36.

The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.

Shbarou R, Mikati MA.

Semin Pediatr Neurol. 2016 May;23(2):134-42. doi: 10.1016/j.spen.2016.06.002. Epub 2016 Jun 2. Review.

PMID:
27544470
37.

Pediatric Sudden Unexpected Death in Epilepsy: What Have we Learned from Animal and Human Studies, and Can we Prevent it?

Holt RL, Arehart E, Hunanyan A, Fainberg NA, Mikati MA.

Semin Pediatr Neurol. 2016 May;23(2):127-33. doi: 10.1016/j.spen.2016.05.002. Epub 2016 May 24. Review.

PMID:
27544469
38.

Introduction.

Mikati MA.

Semin Pediatr Neurol. 2016 May;23(2):95. doi: 10.1016/j.spen.2016.06.008. Epub 2016 Jun 18. No abstract available.

PMID:
27544465
39.

Refractory Status Epilepticus in Children: Intention to Treat With Continuous Infusions of Midazolam and Pentobarbital.

Tasker RC, Goodkin HP, Sánchez Fernández I, Chapman KE, Abend NS, Arya R, Brenton JN, Carpenter JL, Gaillard WD, Glauser TA, Goldstein J, Helseth AR, Jackson MC, Kapur K, Mikati MA, Peariso K, Wainwright MS, Wilfong AA, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group.

Pediatr Crit Care Med. 2016 Oct;17(10):968-975.

40.

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Xixis KI, Mikati MA.

Epileptic Disord. 2016 Sep 1;18(3):336. doi: 10.1684/epd.2016.0840. No abstract available.

41.

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000265. doi: 10.1101/mcs.a000265.

42.

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

Petrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000257. doi: 10.1101/mcs.a000257.

43.

Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation.

Fainberg N, Harper A, Tchapyjnikov D, Mikati MA.

Epileptic Disord. 2016 Mar;18(1):97-100. doi: 10.1684/epd.2016.0791.

44.

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Xixis KI, Mikati MA.

Epileptic Disord. 2015 Dec;17(4):467-72. doi: 10.1684/epd.2015.0784.

45.

Quinidine in the treatment of KCNT1-positive epilepsies.

Mikati MA, Jiang YH, Carboni M, Shashi V, Petrovski S, Spillmann R, Milligan CJ, Li M, Grefe A, McConkie A, Berkovic S, Scheffer I, Mullen S, Bonner M, Petrou S, Goldstein D.

Ann Neurol. 2015 Dec;78(6):995-9. doi: 10.1002/ana.24520. Epub 2015 Nov 18.

46.

Coronin Enhances Actin Filament Severing by Recruiting Cofilin to Filament Sides and Altering F-Actin Conformation.

Mikati MA, Breitsprecher D, Jansen S, Reisler E, Goode BL.

J Mol Biol. 2015 Sep 25;427(19):3137-47. doi: 10.1016/j.jmb.2015.08.011. Epub 2015 Aug 20.

47.

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG.

Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602.

48.

Genetics of pediatric epilepsy.

Hani AJ, Mikati HM, Mikati MA.

Pediatr Clin North Am. 2015 Jun;62(3):703-22. doi: 10.1016/j.pcl.2015.03.013. Review.

PMID:
26022171
49.

Time from convulsive status epilepticus onset to anticonvulsant administration in children.

Sánchez Fernández I, Abend NS, Agadi S, An S, Arya R, Brenton JN, Carpenter JL, Chapman KE, Gaillard WD, Glauser TA, Goodkin HP, Kapur K, Mikati MA, Peariso K, Ream M, Riviello J Jr, Tasker RC, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG).

Neurology. 2015 Jun 9;84(23):2304-11. doi: 10.1212/WNL.0000000000001673. Epub 2015 May 6.

50.

Brain structural connectivity increases concurrent with functional improvement: evidence from diffusion tensor MRI in children with cerebral palsy during therapy.

Englander ZA, Sun J, Laura Case, Mikati MA, Kurtzberg J, Song AW.

Neuroimage Clin. 2015 Jan 9;7:315-24. doi: 10.1016/j.nicl.2015.01.002. eCollection 2015.

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