Etiology
Schmetz A,
Lüdecke HJ,
Surowy H,
Sivalingam S,
Bruel AL,
Caumes R,
Charles P,
Chatron N,
Chrzanowska K,
Codina-Solà M,
Colson C,
Cuscó I,
Denommé-Pichon AS,
Edery P,
Faivre L,
Green A,
Heide S,
Hsieh TC,
Hustinx A,
Kleinendorst L,
Knopp C,
Kraft F,
Krawitz PM,
Lasa-Aranzasti A,
Lesca G,
López-González V,
Maraval J,
Mignot C,
Neuhann T,
Netzer C,
Oehl-Jaschkowitz B,
Petit F,
Philippe C,
Posmyk R,
Putoux A,
Reis A,
Sánchez-Soler MJ,
Suh J,
Tkemaladze T,
Tran Mau Them F,
Travessa A,
Trujillano L,
Valenzuela I,
van Haelst MM,
Vasileiou G,
Vincent-Delorme C,
Walther M,
Verde P,
Bramswig NC,
Wieczorek D
Hum Genet
2024 Jan;143(1):71-84.
Epub 2023 Dec 20
doi: 10.1007/s00439-023-02622-5.
PMID: 38117302
Hamouda I,
Rousseau MC,
Beltran Anzola A,
Aim MA,
de Villemeur TB,
Auquier P,
Baumstarck K;
EVAL-PLH group
Sci Rep
2022 Jul 22;12(1):12512.
doi: 10.1038/s41598-022-16596-3.
PMID: 35869128Free PMC Article
Eaton C,
Tarver J,
Shirazi A,
Pearson E,
Walker L,
Bird M,
Oliver C,
Waite J
J Intellect Disabil Res
2021 Mar;65(3):211-229.
Epub 2021 Jan 11
doi: 10.1111/jir.12807.
PMID: 33426741
Bar C,
Kuchenbuch M,
Barcia G,
Schneider A,
Jennesson M,
Le Guyader G,
Lesca G,
Mignot C,
Montomoli M,
Parrini E,
Isnard H,
Rolland A,
Keren B,
Afenjar A,
Dorison N,
Sadleir LG,
Breuillard D,
Levy R,
Rio M,
Dupont S,
Negrin S,
Danieli A,
Scalais E,
De Saint Martin A,
El Chehadeh S,
Chelly J,
Poisson A,
Lebre AS,
Nica A,
Odent S,
Sekhara T,
Brankovic V,
Goldenberg A,
Vrielynck P,
Lederer D,
Maurey H,
Terrone G,
Besmond C,
Hubert L,
Berquin P,
Billette de Villemeur T,
Isidor B,
Freeman JL,
Mefford HC,
Myers CT,
Howell KB,
Rodríguez-Sacristán Cascajo A,
Meyer P,
Genevieve D,
Guët A,
Doummar D,
Durigneux J,
van Dooren MF,
de Wit MCY,
Gerard M,
Marey I,
Munnich A,
Guerrini R,
Scheffer IE,
Kabashi E,
Nabbout R
Epilepsia
2020 Nov;61(11):2461-2473.
Epub 2020 Sep 21
doi: 10.1111/epi.16679.
PMID: 32954514
Vehmas S,
Curtis B
Camb Q Healthc Ethics
2017 Jul;26(3):505-516.
doi: 10.1017/S0963180116001183.
PMID: 28541179
Diagnosis
Schmetz A,
Lüdecke HJ,
Surowy H,
Sivalingam S,
Bruel AL,
Caumes R,
Charles P,
Chatron N,
Chrzanowska K,
Codina-Solà M,
Colson C,
Cuscó I,
Denommé-Pichon AS,
Edery P,
Faivre L,
Green A,
Heide S,
Hsieh TC,
Hustinx A,
Kleinendorst L,
Knopp C,
Kraft F,
Krawitz PM,
Lasa-Aranzasti A,
Lesca G,
López-González V,
Maraval J,
Mignot C,
Neuhann T,
Netzer C,
Oehl-Jaschkowitz B,
Petit F,
Philippe C,
Posmyk R,
Putoux A,
Reis A,
Sánchez-Soler MJ,
Suh J,
Tkemaladze T,
Tran Mau Them F,
Travessa A,
Trujillano L,
Valenzuela I,
van Haelst MM,
Vasileiou G,
Vincent-Delorme C,
Walther M,
Verde P,
Bramswig NC,
Wieczorek D
Hum Genet
2024 Jan;143(1):71-84.
Epub 2023 Dec 20
doi: 10.1007/s00439-023-02622-5.
PMID: 38117302
Wirth T,
Garone G,
Kurian MA,
Piton A,
Millan F,
Telegrafi A,
Drouot N,
Rudolf G,
Chelly J,
Marks W,
Burglen L,
Demailly D,
Coubes P,
Castro-Jimenez M,
Joriot S,
Ghoumid J,
Belin J,
Faucheux JM,
Blumkin L,
Hull M,
Parnes M,
Ravelli C,
Poulen G,
Calmels N,
Nemeth AH,
Smith M,
Barnicoat A,
Ewenczyk C,
Méneret A,
Roze E,
Keren B,
Mignot C,
Beroud C,
Acosta F Jr,
Nowak C,
Wilson WG,
Steel D,
Capuano A,
Vidailhet M,
Lin JP,
Tranchant C,
Cif L,
Doummar D,
Anheim M
Mov Disord
2022 Jul;37(7):1547-1554.
Epub 2022 Jun 20
doi: 10.1002/mds.29074.
PMID: 35722775Free PMC Article
Brunklaus A,
Brünger T,
Feng T,
Fons C,
Lehikoinen A,
Panagiotakaki E,
Vintan MA,
Symonds J,
Andrew J,
Arzimanoglou A,
Delima S,
Gallois J,
Hanrahan D,
Lesca G,
MacLeod S,
Marjanovic D,
McTague A,
Nuñez-Enamorado N,
Perez-Palma E,
Scott Perry M,
Pysden K,
Russ-Hall SJ,
Scheffer IE,
Sully K,
Syrbe S,
Vaher U,
Velayutham M,
Vogt J,
Weiss S,
Wirrell E,
Zuberi SM,
Lal D,
Møller RS,
Mantegazza M,
Cestèle S
Brain
2022 Nov 21;145(11):3816-3831.
doi: 10.1093/brain/awac210.
PMID: 35696452Free PMC Article
Ernst ME,
Baugh EH,
Thomas A,
Bier L,
Lippa N,
Stong N,
Mulhern MS,
Kushary S,
Akman CI,
Heinzen EL,
Yeh R,
Bi W,
Hanchard NA,
Burrage LC,
Leduc MS,
Chong JSC,
Bend R,
Lyons MJ,
Lee JA,
Suwannarat P,
Brilstra E,
Simon M,
Koopmans M,
van Binsbergen E,
Groepper D,
Fleischer J,
Nava C,
Keren B,
Mignot C,
Mathieu S,
Mancini GMS,
Madan-Khetarpal S,
Infante EM,
Bluvstein J,
Seeley A,
Bachman K,
Klee EW,
Schultz-Rogers LE,
Hasadsri L,
Barnett S,
Ellingson MS,
Ferber MJ,
Narayanan V,
Ramsey K,
Rauch A,
Joset P,
Steindl K,
Sheehan T,
Poduri A,
Vasquez A,
Ruivenkamp C,
White SM,
Pais L,
Monaghan KG,
Goldstein DB,
Sands TT,
Aggarwal V
Epilepsia
2021 Jul;62(7):e103-e109.
Epub 2021 May 26
doi: 10.1111/epi.16931.
PMID: 34041744Free PMC Article
Walton C,
Kerr M
J Appl Res Intellect Disabil
2016 Sep;29(5):395-408.
Epub 2015 Jun 22
doi: 10.1111/jar.12203.
PMID: 26101049
Therapy
Lo Buono V,
Torrisi M,
Leonardi S,
Pidalà A,
Corallo F
Medicine (Baltimore)
2022 Nov 18;101(46):e31404.
doi: 10.1097/MD.0000000000031404.
PMID: 36401482Free PMC Article
Monaghan R,
O'Dwyer M,
Luus R,
Mulryan N,
McCallion P,
McCarron M,
Henman MC
Epilepsy Behav
2021 Sep;122:108191.
Epub 2021 Jul 12
doi: 10.1016/j.yebeh.2021.108191.
PMID: 34265622
Mazza MG,
Rossetti A,
Crespi G,
Clerici M
J Appl Res Intellect Disabil
2020 Mar;33(2):126-138.
Epub 2019 Aug 20
doi: 10.1111/jar.12654.
PMID: 31430018
D'Alessandro P,
Giuglietti M,
Baglioni A,
Verdolini N,
Murgia N,
Piccirilli M,
Elisei S
Psychiatr Danub
2017 Sep;29(Suppl 3):399-404.
PMID: 28953798
Chan JSL,
Chien WT
J Intellect Disabil Res
2017 Jun;61(6):532-548.
Epub 2017 Apr 7
doi: 10.1111/jir.12377.
PMID: 28387017
Prognosis
Thomas Q,
Motta M,
Gautier T,
Zaki MS,
Ciolfi A,
Paccaud J,
Girodon F,
Boespflug-Tanguy O,
Besnard T,
Kerkhof J,
McConkey H,
Masson A,
Denommé-Pichon AS,
Cogné B,
Trochu E,
Vignard V,
El It F,
Rodan LH,
Alkhateeb MA,
Jamra RA,
Duplomb L,
Tisserant E,
Duffourd Y,
Bruel AL,
Jackson A,
Banka S,
McEntagart M,
Saggar A,
Gleeson JG,
Sievert D,
Bae H,
Lee BH,
Kwon K,
Seo GH,
Lee H,
Saeed A,
Anjum N,
Cheema H,
Alawbathani S,
Khan I,
Pinto-Basto J,
Teoh J,
Wong J,
Sahari UBM,
Houlden H,
Zhelcheska K,
Pannetier M,
Awad MA,
Lesieur-Sebellin M,
Barcia G,
Amiel J,
Delanne J,
Philippe C,
Faivre L,
Odent S,
Bertoli-Avella A,
Thauvin C,
Sadikovic B,
Reversade B,
Maroofian R,
Govin J,
Tartaglia M,
Vitobello A
Am J Hum Genet
2022 Oct 6;109(10):1909-1922.
Epub 2022 Aug 30
doi: 10.1016/j.ajhg.2022.08.008.
PMID: 36044892Free PMC Article
Stamberger H,
Crosiers D,
Balagura G,
Bonardi CM,
Basu A,
Cantalupo G,
Chiesa V,
Christensen J,
Dalla Bernardina B,
Ellis CA,
Furia F,
Gardiner F,
Giron C,
Guerrini R,
Klein KM,
Korff C,
Krijtova H,
Leffler M,
Lerche H,
Lesca G,
Lewis-Smith D,
Marini C,
Marjanovic D,
Mazzola L,
McKeown Ruggiero S,
Mochel F,
Ramond F,
Reif PS,
Richard-Mornas A,
Rosenow F,
Schropp C,
Thomas RH,
Vignoli A,
Weber Y,
Palmer E,
Helbig I,
Scheffer IE,
Striano P,
Møller RS,
Gardella E,
Weckhuysen S
Neurology
2022 Jul 19;99(3):e221-e233.
Epub 2022 Jun 3
doi: 10.1212/WNL.0000000000200715.
PMID: 35851549Free PMC Article
Bar C,
Kuchenbuch M,
Barcia G,
Schneider A,
Jennesson M,
Le Guyader G,
Lesca G,
Mignot C,
Montomoli M,
Parrini E,
Isnard H,
Rolland A,
Keren B,
Afenjar A,
Dorison N,
Sadleir LG,
Breuillard D,
Levy R,
Rio M,
Dupont S,
Negrin S,
Danieli A,
Scalais E,
De Saint Martin A,
El Chehadeh S,
Chelly J,
Poisson A,
Lebre AS,
Nica A,
Odent S,
Sekhara T,
Brankovic V,
Goldenberg A,
Vrielynck P,
Lederer D,
Maurey H,
Terrone G,
Besmond C,
Hubert L,
Berquin P,
Billette de Villemeur T,
Isidor B,
Freeman JL,
Mefford HC,
Myers CT,
Howell KB,
Rodríguez-Sacristán Cascajo A,
Meyer P,
Genevieve D,
Guët A,
Doummar D,
Durigneux J,
van Dooren MF,
de Wit MCY,
Gerard M,
Marey I,
Munnich A,
Guerrini R,
Scheffer IE,
Kabashi E,
Nabbout R
Epilepsia
2020 Nov;61(11):2461-2473.
Epub 2020 Sep 21
doi: 10.1111/epi.16679.
PMID: 32954514
Bellinger DC,
O'Leary K,
Rainis H,
Gibb HJ
Environ Res
2016 May;147:159-63.
Epub 2016 Feb 11
doi: 10.1016/j.envres.2015.10.006.
PMID: 26874048
Van Balkom ID,
Vuijk PJ,
Franssens M,
Hoek HW,
Hennekam RC
Dev Med Child Neurol
2012 Oct;54(10):925-31.
Epub 2012 Jun 19
doi: 10.1111/j.1469-8749.2012.04339.x.
PMID: 22712893
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Sandal S,
Verma IC,
Mahay SB,
Dubey S,
Sabharwal RK,
Kulshrestha S,
Saxena R,
Suman P,
Kumar P,
Puri RD
Indian J Pediatr
2024 Jul;91(7):682-695.
Epub 2023 Oct 7
doi: 10.1007/s12098-023-04820-5.
PMID: 37804371
Stamberger H,
Crosiers D,
Balagura G,
Bonardi CM,
Basu A,
Cantalupo G,
Chiesa V,
Christensen J,
Dalla Bernardina B,
Ellis CA,
Furia F,
Gardiner F,
Giron C,
Guerrini R,
Klein KM,
Korff C,
Krijtova H,
Leffler M,
Lerche H,
Lesca G,
Lewis-Smith D,
Marini C,
Marjanovic D,
Mazzola L,
McKeown Ruggiero S,
Mochel F,
Ramond F,
Reif PS,
Richard-Mornas A,
Rosenow F,
Schropp C,
Thomas RH,
Vignoli A,
Weber Y,
Palmer E,
Helbig I,
Scheffer IE,
Striano P,
Møller RS,
Gardella E,
Weckhuysen S
Neurology
2022 Jul 19;99(3):e221-e233.
Epub 2022 Jun 3
doi: 10.1212/WNL.0000000000200715.
PMID: 35851549Free PMC Article
Wirth T,
Garone G,
Kurian MA,
Piton A,
Millan F,
Telegrafi A,
Drouot N,
Rudolf G,
Chelly J,
Marks W,
Burglen L,
Demailly D,
Coubes P,
Castro-Jimenez M,
Joriot S,
Ghoumid J,
Belin J,
Faucheux JM,
Blumkin L,
Hull M,
Parnes M,
Ravelli C,
Poulen G,
Calmels N,
Nemeth AH,
Smith M,
Barnicoat A,
Ewenczyk C,
Méneret A,
Roze E,
Keren B,
Mignot C,
Beroud C,
Acosta F Jr,
Nowak C,
Wilson WG,
Steel D,
Capuano A,
Vidailhet M,
Lin JP,
Tranchant C,
Cif L,
Doummar D,
Anheim M
Mov Disord
2022 Jul;37(7):1547-1554.
Epub 2022 Jun 20
doi: 10.1002/mds.29074.
PMID: 35722775Free PMC Article
Zaman T,
Helbig I,
Božović IB,
DeBrosse SD,
Bergqvist AC,
Wallis K,
Medne L,
Maver A,
Peterlin B,
Helbig KL,
Zhang X,
Goldberg EM
Ann Neurol
2018 Apr;83(4):703-717.
Epub 2018 Mar 30
doi: 10.1002/ana.25188.
PMID: 29466837Free PMC Article
Walton C,
Kerr M
J Appl Res Intellect Disabil
2016 Sep;29(5):395-408.
Epub 2015 Jun 22
doi: 10.1111/jar.12203.
PMID: 26101049