Search Results - "King, Mary D"

The phenotypic spectrum of SCN2A-related epilepsy by Reynolds, Claire, King, Mary D., Gorman, Kathleen M.

“…Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathies, benign familial…”
Get full text

Status dystonicus: a practice guide by Allen, Nicholas M, Lin, Jean‐Pierre, Lynch, Tim, King, Mary D

“…Status dystonicus is a rare, but life‐threatening movement disorder emergency. Urgent assessment is required and management is tailored to patient…”
Get full text

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion by Allen, Nicholas M., Conroy, Judith, Shahwan, Amre, Lynch, Bryan, Correa, Raony G., Pena, Sergio D. J., McCreary, Dara, Magalhães, Tiago R., Ennis, Sean, Lynch, Sally A., King, Mary D.

“…Summary Early onset epileptic encephalopathies (EOEEs) represent a significant diagnostic challenge. Newer genomic approaches have begun to elucidate an…”
Get full text

Paroxysmal Movement Disorders by Harvey, Susan, King, Mary D., Gorman, Kathleen M.

“…Paroxysmal movement disorders (PxMDs) are a clinical and genetically heterogeneous group of movement disorders characterized by episodic involuntary movements…”
Get full text

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care by Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Te Keng, Wee ik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.

“…Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It…”
Get full text

The variable phenotypes of KCNQ‐related epilepsy by Allen, Nicholas M., Mannion, Maria, Conroy, Judith, Lynch, Sally A., Shahwan, Amre, Lynch, Bryan, King, Mary D.

“…Summary Mutations in KCNQ2 and KCNQ3 were originally described in infants with benign familial neonatal seizures (BFNS). Recently, KCNQ2 mutations have also…”
Get full text

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum by MCTAGUE, Amy, APPLETON, Richard, FARRELL, Michael A, HUGHES, Elaine, JEFFERSON, Rosalind, LASCELLES, Karine, LIVINGSTON, John, MEYER, Esther, MCLELLAN, Ailsa, PODURI, Annapurna, SCHEFFER, Ingrid E, SPINTY, Stefan, AVULA, Shivaram, KURIAN, Manju A, KNEEN, Rachel, CROSS, J. Helen, KING, Mary D, JACQUES, Thomas S, BHATE, Sanjay, CRONIN, Anthony, CURRAN, Andrew, DESURKAR, Archana

“…Migrating partial seizures of infancy, also known as epilepsy of infancy with migrating focal seizures, is a rare early infantile epileptic encephalopathy with…”
Get full text

A case-control study of hypoxic-ischemic encephalopathy in newborn infants at >36 weeks gestation by Hayes, Breda C., MD, McGarvey, Cliona, PhD, Mulvany, Siobhan, MSc, Kennedy, John, MD, Geary, Michael P., MD, Matthews, Tom G., MD, King, Mary D., FRCPCH

“…Objective The purpose of this study was to determine risk factors that are associated with hypoxic ischemic encephalopathy (HIE). Study Design This was a…”
Get full text

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome by Sleven, Hannah, Welsh, Seth J., Yu, Jing, Churchill, Mair E.A., Wright, Caroline F., Henderson, Alex, Horvath, Rita, Rankin, Julia, Vogt, Julie, Magee, Alex, McConnell, Vivienne, Green, Andrew, King, Mary D., Cox, Helen, Armstrong, Linlea, Lehman, Anna, Nelson, Tanya N., Williams, Jonathan, Clouston, Penny, Hagman, James, Németh, Andrea H.

“…Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report…”
Get full text

Does early treatment improve outcomes in N‐methyl‐d‐aspartate receptor encephalitis? by Byrne, Susan, McCoy, Blathanid, Lynch, Bryan, Webb, David, King, Mary D

“…N‐methyl‐d‐aspartate (NMDA) receptor encephalitis is a treatable cause of autoimmune encephalitis in both children and adults. It is still unclear if the…”
Get full text

SGCE mutations cause psychiatric disorders: clinical and genetic characterization by PEALL, Kathryn J, SMITH, Daniel J, WHITE, Cathy, LUX, Andrew, JARDINE, Philip, BAJAJ, Narinder, LYNCH, Bryan, KIROV, George, O'RIORDAN, Sean, SAMUEL, Michael, LYNCH, Timothy, KING, Mary D, KURIAN, Manju A, CHINNERY, Patrick F, WARNER, Thomas T, BLAKE, Derek J, OWEN, Michael J, MORRIS, Huw R, WARDLE, Mark, WAITE, Adrian J, HEDDERLY, Tammy, LIN, Jean-Pierre, SMITH, Martin, WHONE, Alan, PALL, Hardev

“…Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder characterized by predominant alcohol responsive upper body myoclonus and…”
Get full text

Footloose: Spinal Myoclonus after Myelomeningocele Repair by Gorman, Kathleen M., MRCPI, King, Mary D., FRCPI

Get full text

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion by Clarke, Nigel F, Waddell, Leigh B, Cooper, Sandra T, Perry, Margaret, Smith, Robert L.L, Kornberg, Andrew J, Muntoni, Francesco, Lillis, Suzanne, Straub, Volker, Bushby, Kate, Guglieri, Michela, King, Mary D, Farrell, Michael A, Marty, Isabelle, Lunardi, Joel, Monnier, Nicole, North, Kathryn N

“…The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch)…”
Get full text

Sydenham's chorea: not gone but perhaps forgotten by Crealey, Miranda, Allen, Nicholas M, Webb, David, Bouldin, Anthony, Mc Sweeney, Niamh, Peake, Deirdre, Tirupathi, Sandya, Butler, Karina, King, Mary D

“…Sydenham's chorea (SC) is characterised by chorea, emotional lability and hypotonia. In this study, we investigated the incidence and clinical presentation of…”
Get full text

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis by Conroy, Judith, Allen, Nicholas M, Gorman, Kathleen, O'Halloran, Eoghan, Shahwan, Amre, Lynch, Bryan, Lynch, Sally A, Ennis, Sean, King, Mary D

“…SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin…”
Get full text

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum by Peall, Kathryn J, Lumsden, Daniel, Kneen, Rachel, Madhu, Rajesh, Peake, Deirdre, Gibbon, Frances, Lewis, Hilary, Hedderly, Tammy, Meyer, Esther, Robb, Stephanie A, Lynch, Bryan, King, Mary D, Lin, Jean‐Pierre, Morris, Huw R, Jungbluth, Heinz, Kurian, Manju A

“…Aim Benign hereditary chorea is a dominantly inherited, childhood‐onset hyperkinetic movement disorder characterized by non‐progressive chorea and variable…”
Get full text

The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy by BRUNKLAUS, ANDREAS, DORRIS, LIAM, ELLIS, RACHAEL, REAVEY, ELEANOR, LEE, ELIZABETH, FORBES, GORDON, APPLETON, RICHARD, CROSS, J HELEN, FERRIE, COLIN, HUGHES, IMELDA, JOLLANDS, ALICE, KING, MARY D, LIVINGSTON, JOHN, LYNCH, BRYAN, PHILIP, SUNNY, SCHEFFER, INGRID E, WILLIAMS, RUTH, ZUBERI, SAMEER M

“…Aim  Genetic testing in the epilepsies is becoming an increasingly accessible clinical tool. Mutations in the sodium channel alpha 1 subunit (SCN1A) gene are…”
Get full text

Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C) by Arbini, Alessia, Gilmore, James, King, Mary D., Gorman, Kathleen M., Krawczyk, Janusz, McInerney, Veronica, O'Brien, Timothy, Shen, Sanbing, Allen, Nicholas M.

“…De novo pathogenic variants in KCNA2 are implicated in causing a spectrum of human neurological disorders, in particular developmental and epileptic…”
Get full text

Possible toxicity following embolization of congenital giant vertex hemangioma: case report by Kieran, Ingrid, Zakaria, Zaitun, Kaliaperumal, Chandrasekaran, O'Rourke, Declan, O'Hare, Alan, Laffan, Eoghan, Caird, John, King, Mary D, Murray, Dylan J

“…The authors describe the case of a 3-year-old boy with a giant congenital vertex hemangioma who underwent presurgical embolization with Onyx (ethylene-vinyl…”
Get full text

Neuronal Voltage-Gated Potassium Channel Complex Autoimmunity in Children by Dhamija, Radhika, MD, Renaud, Deborah L., MD, Pittock, Sean J., MD, McKeon, Andrew, MD, Lachance, Daniel H., MD, Nickels, Katherine C., MD, Wirrell, Elaine C., MD, Kuntz, Nancy L., MD, King, Mary D., MD, Lennon, Vanda A., MD, PhD

“…Autoimmunity targeting voltage-gated potassium channel complexes have not been systematically documented in children. Identified in the Neuroimmunology…”
Get full text