2018
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, 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, Xing 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, Sadeghpour A, Davis EE, Katsanis N, Genomics T, Allori A, Angrist M, Ashley P, Bidegain M, Boyd B, Chambers E, Cope H, Cotten C, Curington T, Davis E, Ellestad S, Fisher K, French A, Gallentine W, Goldberg R, Hill K, Kansagra S, Katsanis N, Katsanis S, Kurtzberg J, Marcus J, McDonald M, Mikati M, Miller S, Murtha A, Perilla Y, Pizoli C, Purves T, Ross S, Sadeghpour A, Smith E, Wiener J, Corbett M, MacLennan A, Gecz J, Biskup S, Goldmann E, Rodan L, Kichula E, Segal E, Jackson K, Asamoah A, Dimmock D, McCarrier J, Botto L, Filloux F, Tvrdik T, Cascino G, Klingerman S, Neumann C, Wang R, Jacobsen J, Nolan M, Snell R, Lehnert K, Sadleir L, Anderlid B, Kvarnung M, Guerrini R, Friez M, Lyons M, Leonhard J, Kringlen G, Casas K, Achkar C, Smith L, Rotenberg A, Poduri A, Sanchis-Juan A, Carss K, Rankin J, Zeman A, Raymond F, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Study D, Hedrich U, Scheffer I, Helbig I, Zamponi G, Lerche H, Mefford H. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American Journal Of Human Genetics 2018, 103: 666-678. PMID: 30343943, PMCID: PMC6216110, DOI: 10.1016/j.ajhg.2018.09.006.Peer-Reviewed Original ResearchConceptsR-type calcium currentsEpileptic encephalopathyCalcium currentPathogenic variantsDevelopmental impairmentR-type calcium channelsDe novo pathogenic variantsCause of DEEProfound developmental impairmentHyperkinetic movement disordersNovo pathogenic variantsAnti-epileptic drug topiramateCentral nervous systemAbundant epileptiform activityVoltage-gated CaSevere neurodevelopmental disorderSeizure freedomInfantile-onset seizuresIntractable seizuresEpileptiform activityVoltage-dependent activationMovement disordersSevere hypotoniaHuman epilepsySynaptic transmission
2015
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome
Salih MA, Seidahmed MZ, Khashab H, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor And Other Hyperkinetic Movements 2015, 5: 306. PMID: 26203402, PMCID: PMC4502426, DOI: 10.7916/d8d21wq0.Peer-Reviewed Original ResearchMacular cherry-red spotsChildhood-onset choreaCherry-red spotWhole-exome sequencingMacular findingsProgressive choreaIntractable seizuresHomozygous missense mutationNeurodegenerative courseProfound hypotoniaRare formVolitional movementPhenotypic spectrumChoreaExome sequencingGM2 gangliosidosisHyperacusisPatientsSaudi familyNeurodegenerative disease genesMissense mutationsDisease-associated genesGangliosidosisHomozygosity mappingVariant phenotypesMutation in <i>GM2A</i> Leads to a Progressive Chorea-dementia Syndrome
Salih M, Seidahmed M, Khashab H, Hamad M, Bosley T, Burn S, Myers A, Landsverk M, Crotwell P, Bilguvar K, Mane S, Kruer M. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor And Other Hyperkinetic Movements 2015, 5: 306. DOI: 10.5334/tohm.246.Peer-Reviewed Original ResearchMacular cherry-red spotsChildhood-onset choreaCherry-red spotWhole-exome sequencingMacular findingsProgressive choreaIntractable seizuresHomozygous missense mutationNeurodegenerative courseProfound hypotoniaRare formVolitional movementPhenotypic spectrumChoreaExome sequencingGM2 gangliosidosisHyperacusisPatientsSaudi familyNeurodegenerative disease genesMissense mutationsGangliosidosisHomozygosity mappingVariant phenotypesMutations