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1. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Author

Kassabian, Benedetta, primary, Levy, Amanda M., additional, Gardella, Elena, additional, Aledo‐Serrano, Angel, additional, Ananth, Amitha L., additional, Brea‐Fernández, Alejandro J., additional, Caumes, Roseline, additional, Chatron, Nicolas, additional, Dainelli, Alice, additional, De Wachter, Matthias, additional, Denommé‐Pichon, Anne‐Sophie, additional, Dye, Thomas J., additional, Fazzi, Elisa, additional, Felt, Roxanne, additional, Fernández‐Jaén, Alberto, additional, Fernández‐Prieto, Montserrat, additional, Gantz, Emily, additional, Gasperowicz, Piotr, additional, Gil‐Nagel, Antonio, additional, Gómez‐Andrés, David, additional, Greiner, Hansel M., additional, Guerrini, Renzo, additional, Haanpää, Maria K., additional, Helin, Minttu, additional, Hoyer, Juliane, additional, Hurst, Anna C. E., additional, Kallish, Staci, additional, Karkare, Shefali N., additional, Khan, Amjad, additional, Kleinendorst, Lotte, additional, Koch, Johannes, additional, Kothare, Sanjeev V., additional, Koudijs, Suzanna V., additional, Lagae, Lieven, additional, Lakeman, Phillis, additional, Leppig, Kathleen A., additional, Lesca, Gaetan, additional, Lopergolo, Diego, additional, Lusk, Laina, additional, Mackenzie, Alex, additional, Mei, Davide, additional, Møller, Rikke S., additional, Pereira, Elaine M., additional, Platzer, Konrad, additional, Quelin, Chloe, additional, Revah‐Politi, Anya, additional, Rheims, Sylvain, additional, Rodríguez‐Palmero, Agustí, additional, Rossi, Andrea, additional, Santorelli, Filippo, additional, Seinfeld, Syndi, additional, Sell, Erick, additional, Stephenson, Donna, additional, Szczaluba, Krzysztof, additional, Trinka, Eugen, additional, Umair, Muhammad, additional, Van Esch, Hilde, additional, van Haelst, Mieke M., additional, Veenma, Danielle C. M., additional, Weber, Sacha, additional, Weckhuysen, Sarah, additional, Zacher, Pia, additional, Tümer, Zeynep, additional, and Rubboli, Guido, additional

Published
2023
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2. O20: The natural history of Angelman syndrome: Sixteen years and 450 individuals later…*

Author

Tan, Wen-Hann, primary, Anderson, Katherine, additional, Sadhwani, Anjali, additional, Billie Au, Ping Yee, additional, Bacino, Carlos, additional, Berry-Kravis, Elizabeth, additional, Boelman, Cyrus, additional, Carson, Robert, additional, DeRamus, Margaret, additional, Duis, Jessica, additional, Murias, Kara, additional, Ochoa-Lubinoff, Cesar, additional, Peters, Sarika, additional, Sell, Erick, additional, Skinner, Steven, additional, Talboy, Amy, additional, Wheeler, Anne, additional, Wink, Logan, additional, Gwaltney, Angela, additional, and Bird, Lynne, additional

Published
2023
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4. A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.

Author

Thulasirajah, Salini, Wang, Xueqi, Sell, Erick, Dávila, Jorge, Dyment, David A., and Kernohan, Kristin D.

Subjects
MISSENSE mutation, CHILDREN with intellectual disabilities, DEVELOPMENTAL delay, MICROCEPHALY, RECOMBINANT proteins
Abstract

Polymicrogyria is a brain malformation characterized by excessive folding of the cortex. To date, numerous causes of polymicrogyria have been identified, including variants in the genes associated with tubulinopathies. Herein, we present a child with severe intellectual disability, refractory to treatment seizures, microcephaly and MRI findings consistent with polymicrogyria, closed-lip schizencephaly, periventricular heterotopia and a dysplastic corpus callosum. Exome sequencing identified a de novo missense variant in TUBG2, a gene not associated with human disease. The variant, NM_016437.3 c.747G>A p.(Met249Ile), is absent from available control databases and is predicated to be deleterious by in silico prediction programs. Laboratory studies show that cultured lymphoblasts derived from the patient grew significantly faster than controls. Recombinant protein was expressed (recombinant wild type and mutant TUBG2-FLAG) in 293T cells and lower levels of TUBG2 mutant compared with controls were observed. Furthermore, co-immuno-precipitation in cells transfected demonstrated that the TUBG2–GCP2 interaction is increased due to the MUT recombinant protein versus WT recombinant protein. In closing, this work provides preliminary evidence that TUBG2 may represent a novel disease gene responsible for polymicrogyria. [ABSTRACT FROM AUTHOR]

Published
2023
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5. Intracranial Calcifications and Ocular Abnormalities in a Child with Neurodevelopmental Delay

Author

Rajaprakash Meghna, Sell Erick, and Heymans Jessica

Subjects
Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Congenital cytomegalovirus infection, medicine.disease, Porencephaly, Congenital cataracts, Medicine, Neurodevelopmental delay, Cerebellar hypoplasia (non-human), Intracranial calcification, business, TORCH Infection, Genetic testing
Abstract

A patient with neurodevelopmental delay and an unremarkable prenatal and birth history presented postnatally with congenital cataracts and neuroanatomical abnormalities including periventricular calcifications, porencephaly, and cerebellar hypoplasia. Although there was initial suspicion for a TORCH infection including cytomegalovirus, further genetic testing revealed a novel COL4A1 mutation, which involves type 4 collagen alpha 1 chain, an important component of vasculature.

Published
2021

8. teenager with ocular signs after tongue injury.

Author

Zheng, Katina, O'Connor, Michael, Vaccani, Jean Philippe, Sell, Erick, Miller, Elka, Ouyang, Eva, and Long, Michelle

Subjects
BLEPHAROPTOSIS, TONGUE, HORNER syndrome, MAGNETIC resonance imaging, TREATMENT effectiveness, WOUNDS & injuries, COMPUTED tomography, CLONIDINE, CUTANEOUS therapeutics, EYE diseases, SYMPTOMS, ADOLESCENCE
Abstract

The article reports that A 16-year-old female presented to the Emergency Department with a tongue laceration. She was playfighting with her brother who swung a samurai sword and cut her tongue as she tried to dodge it. She denied headaches, constitutional symptoms, weakness, or loss of consciousness.

Published
2022
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9. The impact of electronic consultation on a Canadian tertiary care pediatric specialty referral system: A prospective single-center observational study

Author

Lai, Lillian, primary, Liddy, Clare, additional, Keely, Erin, additional, Afkham, Amir, additional, Kurzawa, Julia, additional, Abdeen, Nishard, additional, Audcent, Tobey, additional, Bromwich, Matthew, additional, Brophy, Jason, additional, Carsen, Sasha, additional, Fournier, Annick, additional, Fraser-Roberts, Leigh, additional, Gandy, Hazen, additional, Hui, Charles, additional, Johnston, Donna, additional, Keely, Kathryn, additional, Kontio, Ken, additional, Lamontagne, Christine, additional, Major, Nathalie, additional, O’Connor, Michael, additional, Radhakrishnan, Dhenuka, additional, Reisman, Joe, additional, Robb, Marjorie, additional, Samson, Lindy, additional, Sell, Erick, additional, Splinter, William, additional, van Stralen, Judy, additional, Venkateswaran, Sunita, additional, and Murto, Kimmo, additional

Published
2018
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17. DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Author

Vanstone, Jason R, Smith, Amanda M, McBride, Skye, Naas, Turaya, Holcik, Martin, Antoun, Ghadi, Harper, Mary-Ellen, Michaud, Jean, Sell, Erick, Chakraborty, Pranesh, Tetreault, Martine, Majewski, Jacek, Baird, Stephen, Boycott, Kym M, Dyment, David A, MacKenzie, Alex, and Lines, Matthew A

Abstract

Mitochondrial fission and fusion are dynamic processes vital to mitochondrial quality control and the maintenance of cellular respiration. In dividing mitochondria, membrane scission is accomplished by a dynamin-related GTPase, DNM1L, that oligomerizes at the site of fission and constricts in a GTP-dependent manner. There is only a single previous report of DNM1L-related clinical disease: a female neonate with encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF; OMIM #614388), a lethal disorder characterized by cerebral dysgenesis, seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes. Here, we describe a second individual, diagnosed via whole-exome sequencing, who presented with developmental delay, refractory epilepsy, prolonged survival, and no evidence of mitochondrial or peroxisomal dysfunction on standard screening investigations in blood and urine. EEG was nonspecific, showing background slowing with frequent epileptiform activity at the frontal and central head regions. Electron microscopy of skeletal muscle showed subtle, nonspecific abnormalities of cristal organization, and confocal microscopy of patient fibroblasts showed striking hyperfusion of the mitochondrial network. A panel of further bioenergetic studies in patient fibroblasts showed no significant differences versus controls. The proband’s de novo DNM1L variant, NM_012062.4:c.1085G>A; NP_036192.2:p.(Gly362Asp), falls within the middle (oligomerization) domain of DNM1L, implying a likely dominant-negative mechanism. This disorder, which presents nonspecifically and affords few diagnostic clues, can be diagnosed by means of DNM1L sequencing and/or confocal microscopy.

Published
2016
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19. Case 1: Foot drop and numbness in a 16-year-old girl.

Author

Lewis, Evan Cole, Evans, Jeanette W., and Sell, Erick

Subjects
ANOREXIA nervosa, PERIPHERAL neuropathy diagnosis, ANOREXIA nervosa complications, FOOT, WEIGHT loss, DIAGNOSIS
Abstract

The article presents a case study of a teenage girl who presented with history of right foot drop and numbness and anterolateral aspect of the lower limb. Clinical tests resulted in a preliminary diagnosis of peroneal mononeuropathy. Denervation changes were revealed by electromyography of the tibialis anterior muscle.

Published
2013

20. Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Author

Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, and Rubboli G

Subjects
Humans, Retrospective Studies, Muscle Hypotonia, Seizures complications, Electroencephalography methods, Disks Large Homolog 4 Protein genetics, Epilepsy diagnostic imaging, Epilepsy genetics, Epilepsy complications, Brain Diseases genetics, Epilepsy, Generalized complications, Intellectual Disability genetics, Intellectual Disability complications
Abstract

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy., Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician., Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike-wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype-phenotype relationship even between individuals with the same DLG4 variants., Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requires proper investigation with sleep EEG., (© 2023 International League Against Epilepsy.)

Published
2024
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