Department of Neurology

Pediatric Neurology Publications 2019

Dines JN,
Liu YJ, Neufeld-Kaiser W, Sawyer T, Ishak GE, Tully HM, Racobaldo M, Sanchez-Valle A, Disteche CM, Juusola J,
Torti E, McWalter K, Doherty D, Dipple KM. Expanding phenotype with severe
midline brain anomalies and missense variant supports a causal role for FOXA2
in 20p11.2 deletion syndrome. Am J Med Genet A. 2019 Sep;179(9):1783-1790

Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Costello syndrome: Clinical phenotype, genotype, and management guidelines  Am J Med Genet A. 2019 Sep;179(9):1725-1744.

Berg AT,
Wusthoff C, Shellhaas RA, Loddenkemper T, Grinspan ZM, Saneto RP, Knupp KG, Patel A, Sullivan JE, Kossoff EH, Chu CJ,
Massey S, Valencia I, Keator C, Wirrell EC, Coryell J, Millichap JJ, Gaillard
WD. Immediate outcomes in early life epilepsy: A contemporary account.Epilepsy
Behav. 2019 Aug;97:44-50.

Topjian
AA, de Caen A, Wainwright MS, Abella
BS, Abend NS, Atkins DL, Bembea MM, Fink EL, Guerguerian AM, Haskell SE,
Kilgannon JH, Lasa JJ, Hazinski MF.  Pediatric
Post-Cardiac Arrest Care: A Scientific Statement From the American Heart
Association. 2019 Aug 6;140(6):e194-e233.

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; The onset of
pediatric refractory status epilepticus is not distributed uniformly during the
day.Pediatric Status Epilepticus Research Group. Seizure. 2019 Aug;70:90-96.

Kanca O,
Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS,
Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G,
Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello
TC, Dobyns WB, Adams DR, Gahl WA,
Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are
Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay,

Intellectual
Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019
Aug 1;105(2):413-424.

Holt RJ,
Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon
M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sørensen
KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S,
Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing
N, Calvas P, Ragge NK.   De Novo Missense
Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye,
and Digit Anomalies. Am J Hum Genet. 2019 Jul 23. pii:
S0002-9297(19)30268-X.

Ng BG,
Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE,
Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl
WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM,
Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak
CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson
SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC,
Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal
NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA,
Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S,
Freeze HH.  SLC35A2-CDG: Functional
characterization, expanded molecular, clinical, and biochemical phenotypes of
30 unreported Individuals. Hum Mutat. 2019 Jul;40(7):908-925.

Lockrow JP, Wright JN, Saneto RP, Amlie-Lefond C.
Epileptic Spasms Predict Poor Epilepsy Outcomes After Perinatal Stroke J Child
Neurol. 2019 Jul 24:

Wainwright MS. 
Clinician, Heal Thyself”: Decisional Conflict, Value Judgments, and
Their Role in Practice Variation in Traumatic Brain Injury Pediatr
Crit Care Med. 2019 Jul;20(7):679-680.

Sandrone
S, Berthaud JV, Carlson C, Cios J, Dixit N, Farheen A, Kraker J, Owens JWM, Patino G, Sarva H, Weber D,
Schneider LD.  Education Research:
Flipped classroom in neurology: Principles, practices, and perspectivesNeurology.
2019 Jul 2;93(1):e106-e111.

Kochanek
PM, Tasker RC, Carney N, Totten AM, Adelson PD, Selden NR, Davis-O’Reilly C,
Hart EL, Bell MJ, Bratton SL, Grant GA, Kissoon N, Reuter-Rice KE, Vavilala MS,
Wainwright MS. Guidelines for the
Management of Pediatric Severe Traumatic Brain Injury, Third Edition: Update of
the Brain Trauma Foundation Guidelines, Executive Summary
Neurosurgery. 2019 Jun 1;84(6):1169-1178.

Ibañez
LV, Stoep AV, Myers K, Zhou C, Dorsey S, Steinman
KJ, Stone WL. BMC Promoting early autism detection and intervention in
underserved communities: study protocol for a pragmatic trial using a
stepped-wedge design.Psychiatry. 2019 Jun 7;19(1):169.

Barry M, Hallam DK, Bernard TJ, Amlie-Lefond C  What is the Role of Mechanical Thrombectomy in Childhood Stroke? Pediatr Neurol. 2019 Jun;95:19-25.

Chelse
AB, Kurz JE, Gorman KM, Epstein LG, Balmert LC, Ciolino JD, Wainwright MS. Remote poststroke
headache in children: Characteristics and association with stroke
recurrence.   Neurol Clin Pract. 2019
Jun;9(3):194-200.

McKeever
JD, Schultheis MT, Sim T, Goykhman J, Patrick
K, Ehde DM, Woods SP. Selective reminding of prospective memory in Multiple
Sclerosis Neuropsychol Rehabil. 2019 Jun;29(5):675-690.

Karasozen
Y, Osbun JW, Parada CA, Busald T, Tatman P, Gonzalez-Cuyar LF, Hale CJ,
Alcantara D, O’Driscoll M, Dobyns WB,
Murray M, Kim LJ, Byers P, Dorschner MO, Ferreira M Jr. Somatic PDGFRB
Activating Variants in Fusiform Cerebral Aneurysms Am J Hum
Genet. 2019 May 2;104(5):968-976.

Marsillio
LE, Manghi T, Carroll MS, Balmert LC, Wainwright
MS  Heart rate variability as a
marker of recovery from critical illness in children.PLoS One.
2019 May 17;14(5)

Amengual-Gual
M, Sánchez Fernández I, Wainwright MS.
Novel drugs and early polypharmacotherapy in status epilepticus Seizure. 2019 May;68:79-88. doi:
10.1016/j.seizure.2018.08.004. Epub 2018 Aug 7. Review.

Kochanek
PM, Tasker RC, Carney N, Totten AM, Adelson PD, Selden NR, Davis-O’Reilly C,
Hart EL, Bell MJ, Bratton SL, Grant GA, Kissoon N, Reuter-Rice KE, Vavilala MS,
Wainwright MS. Guidelines for the
Management of Pediatric Severe Traumatic Brain Injury, Third Edition: Update of
the Brain Trauma Foundation Guidelines. Pediatr Crit Care Med.
2019 Mar;20(3S Suppl 1):S1-S82.  Erratum
in: Pediatr Crit Care Med. 2019 Apr;20(4):404.

Messacar
K, Sillau S, Hopkins SE, Otten C,
Wilson-Murphy M, Wong B, Santoro JD, Treister A, Bains HK, Torres A, Zabrocki
L, Glanternik JR, Hurst AL, Martin JA, Schreiner T, Makhani N, DeBiasi RL,
Kruer MC, Tremoulet AH, Van Haren K, Desai J, Benson LA, Gorman MP, Abzug MJ, Tyler
KL, Dominguez SR. Safety, tolerability, and efficacy of fluoxetine as an
antiviral for acute flaccid myelitis. Neurology. 2019 Apr
30;92(18):e2118-e2126.

Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. Brain. 2019 Apr 1;142(4):867-884

Kahn-Kirby
AH, Amagata A, Maeder CI, Mei JJ, Sideris S, Kosaka Y, Hinman A, Malone SA,
Bruegger JJ, Wang L, Kim V, Shrader WD, Hoff KG, Latham JC, Ashley EA, Wheeler
MT, Bertini E, Carrozzo R, Martinelli D, Dionisi-Vici C, Chapman KA, Enns GM,
Gahl W, Wolfe L, Saneto RP, Johnson
SC, Trimmer JK, Klein MB, Holst CR. Targeting ferroptosis: A novel therapeutic
strategy for the treatment of mitochondrial disease-related epilepsy PLoS One.
2019 Mar 28;14(3):

Wainwright MS. 
Getting Excited About Paroxysms: Why Treating Sympathetic Hyperarousal
After Traumatic Brain Injury May Be More Important Than We Appreciated Pediatr Crit Care Med. 2019 Mar;20(3):295-296.

Kochanek
PM, Tasker RC, Carney N, Totten AM, Adelson PD, Selden NR, Davis-O’Reilly C,
Hart EL, Bell MJ, Bratton SL, Grant GA, Kissoon N, Reuter-Rice KE, Vavilala MS,
Wainwright MS. Guidelines for the
Management of Pediatric Severe Traumatic Brain Injury, Third Edition: Update of
the Brain Trauma Foundation Guidelines, Executive Summary.Pediatr
Crit Care Med. 2019 Mar;20(3):280-289

Kochanek
PM, Tasker RC, Bell MJ, Adelson PD, Carney N, Vavilala MS, Selden NR, Bratton
SL, Grant GA, Kissoon N, Reuter-Rice KE, Wainwright
MS. Management of Pediatric Severe Traumatic Brain Injury: 2019 Consensus
and Guidelines-Based Algorithm for First and Second Tier Therapies.  Pediatr Crit Care Med.
2019 Mar;20(3):269-279.

Coughlin
CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van
Karnebeek CDM, Gospe SM Jr, Aziz VG,
Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The
genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent
epilepsy: A common epileptic encephalopathy J Inherit Metab
Dis. 2019 Mar;42(2):353-361

Dlamini N, Muthusami P, Amlie-Lefond C. Childhood Moyamoya: Looking Back to the Future. Pediatr Neurol. 2019 Feb;91:11-19.

Wenger
TL, Hopper RA, Rosen A, Tully HM,
Cunningham ML, Lee A. A genotype-specific surgical approach for patients with
Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with
improved developmental outcomes and reduced mortality. Genet Med. 2019 Feb;21(2):471-476.

Piao CS,
Holloway AL, Hong-Routson S, Wainwright
MS. Depression following traumatic brain injury in mice is associated with
down-regulation of hippocampal astrocyte glutamate transporters by thrombin J Cereb Blood Flow Metab. 2019 Jan;39(1):58-73.

Parsons EC, Carter JC, Wrede JE, Donovan LM, Palen BN. Practical implementation of noninvasive ventilation in Amyotrophic Lateral Sclerosis: lessons learned from a clinical case series Can J Respir Ther. 2019 Jan 9;55:13-15. Lo MD, Gospe SM Jr. Telemedicine and Child Neurology.   J Child Neurol. 2019 Jan;34(1):22-26