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Items: 6

1.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xin Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18.

PMID:
30343943
2.

Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program results.

Szaflarski JP, Bebin EM, Comi AM, Patel AD, Joshi C, Checketts D, Beal JC, Laux LC, De Boer LM, Wong MH, Lopez M, Devinsky O, Lyons PD, Zentil PP, Wechsler R; CBD EAP study group.

Epilepsia. 2018 Aug;59(8):1540-1548. doi: 10.1111/epi.14477. Epub 2018 Jul 12.

3.

Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.

Segal E, Pedro H, Valdez-Gonzalez K, Parisotto S, Gliksman F, Thompson S, Sabri J, Fertig E.

Pediatr Neurol. 2016 Nov;64:66-71. doi: 10.1016/j.pediatrneurol.2016.06.019. Epub 2016 Jul 1.

PMID:
27726903
4.

Generalized periodic epileptiform discharges in critically ill children: clinical features, and outcome.

Akman CI, Abou Khaled KJ, Segal E, Micic V, Riviello JJ.

Epilepsy Res. 2013 Oct;106(3):378-85. doi: 10.1016/j.eplepsyres.2013.06.019. Epub 2013 Aug 21.

PMID:
23972778
5.

Effect of treatment of obstructive sleep apnea on seizure outcomes in children with epilepsy.

Segal E, Vendrame M, Gregas M, Loddenkemper T, Kothare SV.

Pediatr Neurol. 2012 Jun;46(6):359-62. doi: 10.1016/j.pediatrneurol.2012.03.005.

PMID:
22633630
6.

Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy.

Segal EB, Grinspan ZM, Mandel AM, Gospe SM Jr.

Pediatr Neurol. 2011 Apr;44(4):289-91. doi: 10.1016/j.pediatrneurol.2010.11.012.

PMID:
21397171

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