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Jul 28, 2016
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJ, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RC, Chung B, Lehman A, Su J, Ng S, Amor DJ, University of Washington Center for Mendelian Genomics, Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the ...
Jul 28, 2016
Bjoraker KJ, Swanson MA, Coughlin CR, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JL
OBJECTIVE: To evaluate the impact of sodium benzoate and dextromethorphan treatment on patients with the attenuated form of nonketotic hyperglycinemia. STUDY DESIGN: Families were recruited with 2 siblings both...
Jul 28, 2016
Jellema RK, Ophelders DR, Zwanenburg A, Nikiforou M, Delhaas T, Andriessen P, Mays RW, Deans R, Germeraad WT, Wolfs TG, Kramer BW
BACKGROUND: Preterm infants are at risk for hypoxic-ischemic encephalopathy. No therapy exists to treat this brain injury and subsequent long-term sequelae. We have previously shown in a well-established pre-clinical m...
Jul 28, 2016
Baskan O, Silav G, Demirci S, Canoz O, Turanli G, Elmaci I
Hemimegalencephaly is a rare neuronal migration disorder that can be defined as abnormal neural and glial proliferation localized to all or part of a cerebral hemisphere. Most patients demonstrate intractable epilepsy,...
Jul 28, 2016
Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO
Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE Exome(TM) (Personalis, Inc; 18 cases) ...
Jul 28, 2016
Follansbee-Junger KW, Mann KA, Guilfoyle SM, Morita DA, Varni JW, Modi AC
Youth with epilepsy have impaired health-related quality of life (HRQOL). Existing epilepsy-specific HRQOL measures are limited by not having parallel self- and parent-proxy versions, having a restricted age range, not...
Jul 28, 2016
Eytan D, Pang EW, Doesburg SM, Nenadovic V, Gavrilovic B, Laussen P, Guerguerian AM
Acute brain injury is a common cause of death and critical illness in children and young adults. Fundamental management focuses on early characterization of the extent of injury and optimizing recovery by preventing se...
Jul 28, 2016
Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL
Hypothalamic hamartoma (HH) with gelastic epilepsy is a well-recognized drug-resistant epilepsy syndrome of early life.(1) Surgical resection allows limited access to the small deep-seated lesions that cause the diseas...
Jul 28, 2016
Latal B, Wohlrab G, Brotschi B, Beck I, Knirsch W, Bernet V
OBJECTIVES: To evaluate the predictive value of pre- and postoperative amplitude-integrated electroencephalography (aEEG) on neurodevelopmental outcomes in children operated for congenital heart disease (CHD). ...
Jul 28, 2016
Carson AM, Chapieski L
Children with epilepsy are at increased risk for deficits in social functioning, though the underlying causes are not well-understood. We examined multiple seizure-related, demographic, and cognitive variables in a gro...

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