Etiology
Verberne EA,
van der Laan L,
Haghshenas S,
Rooney K,
Levy MA,
Alders M,
Maas SM,
Jansen S,
Lieden A,
Anderlid BM,
Rafael-Croes L,
Campeau PM,
Chaudhry A,
Koolen DA,
Pfundt R,
Hurst ACE,
Tran-Mau-Them F,
Bruel AL,
Lambert L,
Isidor B,
Mannens MMAM,
Sadikovic B,
Henneman P,
van Haelst MM
Int J Mol Sci
2022 Jul 20;23(14)
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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.
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Molenhuis RT,
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Adv Anat Embryol Cell Biol
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J Inherit Metab Dis
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Patterson PH
Pediatr Res
2011 May;69(5 Pt 2):34R-40R.
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Diagnosis
Cousin MA,
Creighton BA,
Breau KA,
Spillmann RC,
Torti E,
Dontu S,
Tripathi S,
Ajit D,
Edwards RJ,
Afriyie S,
Bay JC,
Harper KM,
Beltran AA,
Munoz LJ,
Falcon Rodriguez L,
Stankewich MC,
Person RE,
Si Y,
Normand EA,
Blevins A,
May AS,
Bier L,
Aggarwal V,
Mancini GMS,
van Slegtenhorst MA,
Cremer K,
Becker J,
Engels H,
Aretz S,
MacKenzie JJ,
Brilstra E,
van Gassen KLI,
van Jaarsveld RH,
Oegema R,
Parsons GM,
Mark P,
Helbig I,
McKeown SE,
Stratton R,
Cogne B,
Isidor B,
Cacheiro P,
Smedley D,
Firth HV,
Bierhals T,
Kloth K,
Weiss D,
Fairley C,
Shieh JT,
Kritzer A,
Jayakar P,
Kurtz-Nelson E,
Bernier RA,
Wang T,
Eichler EE,
van de Laar IMBH,
McConkie-Rosell A,
McDonald MT,
Kemppainen J,
Lanpher BC,
Schultz-Rogers LE,
Gunderson LB,
Pichurin PN,
Yoon G,
Zech M,
Jech R,
Winkelmann J;
Undiagnosed Diseases Network;
Genomics England Research Consortium,
Beltran AS,
Zimmermann MT,
Temple B,
Moy SS,
Klee EW,
Tan QK,
Lorenzo DN
Nat Genet
2021 Jul;53(7):1006-1021.
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Yang L,
Shu X,
Mao S,
Wang Y,
Du X,
Zou C
Genes (Basel)
2021 Jun 28;12(7)
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Boniel S,
Szymańska K,
Śmigiel R,
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Genes (Basel)
2021 Mar 25;12(4)
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Stamberger H,
Nikanorova M,
Willemsen MH,
Accorsi P,
Angriman M,
Baier H,
Benkel-Herrenbrueck I,
Benoit V,
Budetta M,
Caliebe A,
Cantalupo G,
Capovilla G,
Casara G,
Courage C,
Deprez M,
Destrée A,
Dilena R,
Erasmus CE,
Fannemel M,
Fjær R,
Giordano L,
Helbig KL,
Heyne HO,
Klepper J,
Kluger GJ,
Lederer D,
Lodi M,
Maier O,
Merkenschlager A,
Michelberger N,
Minetti C,
Muhle H,
Phalin J,
Ramsey K,
Romeo A,
Schallner J,
Schanze I,
Shinawi M,
Sleegers K,
Sterbova K,
Syrbe S,
Traverso M,
Tzschach A,
Uldall P,
Van Coster R,
Verhelst H,
Viri M,
Winter S,
Wolff M,
Zenker M,
Zoccante L,
De Jonghe P,
Helbig I,
Striano P,
Lemke JR,
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Neurology
2016 Mar 8;86(10):954-62.
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Ben Zeev Ghidoni B
Child Adolesc Psychiatr Clin N Am
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Therapy
Susanin A,
Cooper M,
Makara A,
Kuschner ES,
Timko CA
Eur Eat Disord Rev
2022 Sep;30(5):664-670.
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Boets S,
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Destree A,
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Lesca G,
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J Med Genet
2022 Jun;59(6):528-535.
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Eur Eat Disord Rev
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Trivisano M,
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Epilepsy Behav
2019 Dec;101(Pt B):106539.
Epub 2019 Oct 31
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PMID: 31678000
Tang S,
Terzic B,
Wang IJ,
Sarmiento N,
Sizov K,
Cui Y,
Takano H,
Marsh ED,
Zhou Z,
Coulter DA
Nat Commun
2019 Jun 14;10(1):2655.
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Prognosis
Rosenfeld JA,
Xiao R,
Bekheirnia MR,
Kanani F,
Parker MJ,
Koenig MK,
van Haeringen A,
Ruivenkamp C,
Rosmaninho-Salgado J,
Almeida PM,
Sá J,
Pinto Basto J,
Palen E,
Oetjens KF,
Burrage LC,
Xia F,
Liu P,
Eng CM;
Undiagnosed Diseases Network,
Yang Y,
Posey JE,
Lee BH
Am J Med Genet A
2021 Jul;185(7):2037-2045.
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Guo H,
Zhang Q,
Dai R,
Yu B,
Hoekzema K,
Tan J,
Tan S,
Jia X,
Chung WK,
Hernan R,
Alkuraya FS,
Alsulaiman A,
Al-Muhaizea MA,
Lesca G,
Pons L,
Labalme A,
Laux L,
Bryant E,
Brown NJ,
Savva E,
Ayres S,
Eratne D,
Peeters H,
Bilan F,
Letienne-Cejudo L,
Gilbert-Dussardier B,
Ruiz-Arana IL,
Merlini JM,
Boizot A,
Bartoloni L,
Santoni F,
Karlowicz D,
McDonald M,
Wu H,
Hu Z,
Chen G,
Ou J,
Brasch-Andersen C,
Fagerberg CR,
Dreyer I,
Chun-Hui Tsai A,
Slegesky V,
McGee RB,
Daniels B,
Sellars EA,
Carpenter LA,
Schaefer B,
Sacoto MJG,
Begtrup A,
Schnur RE,
Punj S,
Wentzensen IM,
Rhodes L,
Pan Q,
Bernier RA,
Chen C,
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Xia K
Am J Hum Genet
2020 Nov 5;107(5):963-976.
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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
Besag FM
Epilepsy Behav
2015 Jun;47:143-6.
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Jurecka A,
Zikanova M,
Kmoch S,
Tylki-Szymańska A
J Inherit Metab Dis
2015 Mar;38(2):231-42.
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Clinical prediction guides
Sanchez-Jimeno C,
Blanco-Kelly F,
López-Grondona F,
Losada-Del Pozo R,
Moreno B,
Rodrigo-Moreno M,
Martinez-Cayuelas E,
Riveiro-Alvarez R,
Fenollar-Cortés M,
Ayuso C,
Rodríguez de Alba M,
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Almoguera B
Genes (Basel)
2021 Aug 30;12(9)
doi: 10.3390/genes12091360.
PMID: 34573342Free PMC Article
Cousin MA,
Creighton BA,
Breau KA,
Spillmann RC,
Torti E,
Dontu S,
Tripathi S,
Ajit D,
Edwards RJ,
Afriyie S,
Bay JC,
Harper KM,
Beltran AA,
Munoz LJ,
Falcon Rodriguez L,
Stankewich MC,
Person RE,
Si Y,
Normand EA,
Blevins A,
May AS,
Bier L,
Aggarwal V,
Mancini GMS,
van Slegtenhorst MA,
Cremer K,
Becker J,
Engels H,
Aretz S,
MacKenzie JJ,
Brilstra E,
van Gassen KLI,
van Jaarsveld RH,
Oegema R,
Parsons GM,
Mark P,
Helbig I,
McKeown SE,
Stratton R,
Cogne B,
Isidor B,
Cacheiro P,
Smedley D,
Firth HV,
Bierhals T,
Kloth K,
Weiss D,
Fairley C,
Shieh JT,
Kritzer A,
Jayakar P,
Kurtz-Nelson E,
Bernier RA,
Wang T,
Eichler EE,
van de Laar IMBH,
McConkie-Rosell A,
McDonald MT,
Kemppainen J,
Lanpher BC,
Schultz-Rogers LE,
Gunderson LB,
Pichurin PN,
Yoon G,
Zech M,
Jech R,
Winkelmann J;
Undiagnosed Diseases Network;
Genomics England Research Consortium,
Beltran AS,
Zimmermann MT,
Temple B,
Moy SS,
Klee EW,
Tan QK,
Lorenzo DN
Nat Genet
2021 Jul;53(7):1006-1021.
Epub 2021 Jul 1
doi: 10.1038/s41588-021-00886-z.
PMID: 34211179Free PMC Article
Rosenfeld JA,
Xiao R,
Bekheirnia MR,
Kanani F,
Parker MJ,
Koenig MK,
van Haeringen A,
Ruivenkamp C,
Rosmaninho-Salgado J,
Almeida PM,
Sá J,
Pinto Basto J,
Palen E,
Oetjens KF,
Burrage LC,
Xia F,
Liu P,
Eng CM;
Undiagnosed Diseases Network,
Yang Y,
Posey JE,
Lee BH
Am J Med Genet A
2021 Jul;185(7):2037-2045.
Epub 2021 Apr 13
doi: 10.1002/ajmg.a.62201.
PMID: 33847457Free PMC Article
Guo H,
Zhang Q,
Dai R,
Yu B,
Hoekzema K,
Tan J,
Tan S,
Jia X,
Chung WK,
Hernan R,
Alkuraya FS,
Alsulaiman A,
Al-Muhaizea MA,
Lesca G,
Pons L,
Labalme A,
Laux L,
Bryant E,
Brown NJ,
Savva E,
Ayres S,
Eratne D,
Peeters H,
Bilan F,
Letienne-Cejudo L,
Gilbert-Dussardier B,
Ruiz-Arana IL,
Merlini JM,
Boizot A,
Bartoloni L,
Santoni F,
Karlowicz D,
McDonald M,
Wu H,
Hu Z,
Chen G,
Ou J,
Brasch-Andersen C,
Fagerberg CR,
Dreyer I,
Chun-Hui Tsai A,
Slegesky V,
McGee RB,
Daniels B,
Sellars EA,
Carpenter LA,
Schaefer B,
Sacoto MJG,
Begtrup A,
Schnur RE,
Punj S,
Wentzensen IM,
Rhodes L,
Pan Q,
Bernier RA,
Chen C,
Eichler EE,
Xia K
Am J Hum Genet
2020 Nov 5;107(5):963-976.
doi: 10.1016/j.ajhg.2020.10.002.
PMID: 33157009Free PMC Article
Jurecka A,
Zikanova M,
Kmoch S,
Tylki-Szymańska A
J Inherit Metab Dis
2015 Mar;38(2):231-42.
Epub 2014 Aug 12
doi: 10.1007/s10545-014-9755-y.
PMID: 25112391Free PMC Article