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Items: 1 to 50 of 238

1.

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. 2018 Oct 26. doi: 10.1111/dmcn.14077. [Epub ahead of print]

PMID:
30362107
2.

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 28:1-6. doi: 10.3171/2018.6.PEDS1828. [Epub ahead of print]

PMID:
30265228
3.

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.

4.

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
5.

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.

PMID:
29889309
6.

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
7.

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.

8.

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.

PMID:
29679388
9.

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
10.

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.

PMID:
29643084
11.

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.

PMID:
29444762
12.

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.

PMID:
29356811
13.

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.

PMID:
29291456
14.

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.

15.

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
16.

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.

17.

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.

18.

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.

19.

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
20.

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.

21.

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
22.

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.

23.

Sedation with orally administered midazolam in elderly dental patients with major neurocognitive disorder.

Rignell L, Mikati M, Wertsén M, Hägglin C.

Gerodontology. 2017 Sep;34(3):299-305. doi: 10.1111/ger.12262. Epub 2017 Feb 17.

PMID:
28211099
24.

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.

25.

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.

26.

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.

27.

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.

28.

Molecular Mechanism of Action of Antimalarial Benzoisothiazolones: Species-Selective Inhibitors of the Plasmodium spp. MEP Pathway enzyme, IspD.

Price KE, Armstrong CM, Imlay LS, Hodge DM, Pidathala C, Roberts NJ, Park J, Mikati M, Sharma R, Lawrenson AS, Tolia NH, Berry NG, O'Neill PM, John AR.

Sci Rep. 2016 Nov 18;6:36777. doi: 10.1038/srep36777.

29.

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
30.

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
31.

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
32.

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
33.

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.

34.

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.

35.

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.

36.

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.

37.

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.

38.

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.

39.

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium.

Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.

40.

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.

41.

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.

42.

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM.

Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.

43.

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.

44.

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
45.

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.

46.

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.

47.

Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization.

Hunanyan AS, Fainberg NA, Linabarger M, Arehart E, Leonard AS, Adil SM, Helseth AR, Swearingen AK, Forbes SL, Rodriguiz RM, Rhodes T, Yao X, Kibbi N, Hochman DW, Wetsel WC, Hochgeschwender U, Mikati MA.

Epilepsia. 2015 Jan;56(1):82-93. doi: 10.1111/epi.12878. Epub 2014 Dec 19.

48.

Significance of Epilepsy & behavior: my personal experience and views.

Mikati MA.

Epilepsy Behav. 2014 Nov;40:129. doi: 10.1016/j.yebeh.2014.09.064. Epub 2014 Oct 23. No abstract available.

PMID:
25453555
49.

Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.

Ream MA, Mikati MA.

Epilepsy Behav. 2014 Aug;37:241-8. doi: 10.1016/j.yebeh.2014.06.018. Epub 2014 Aug 9.

PMID:
25108116
50.

Distinct neurological disorders with ATP1A3 mutations.

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group.

Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Review.

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