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
2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, Khashab H, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. American Journal Of Human Genetics 2016, 98: 1249-1255. PMID: 27236917, PMCID: PMC4908178, DOI: 10.1016/j.ajhg.2016.04.008.Peer-Reviewed Original ResearchConceptsGlutamatergic neurotransmissionMovement disordersAbnormalities of glutamateEpileptic-dyskinetic encephalopathyHyperkinetic movement disordersChildhood movement disordersBiallelic pathogenic variantsChronic abnormalitiesNeurological diseasesNeurological disordersMammalian brainPathogenic variantsEpilepsyDisordersFunction mutationsNeurotransmissionAbnormalitiesMonogenic neurological diseasesOuter core proteinFRRS1LEncephalopathyEtiologyChoreoathetosisAMPAExcitatory