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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29.
J Med Genet. 2016.
PMID: 27358180
Free PMC article.
Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events.
Thiriaux A, de St Martin A, Vercueil L, Battaglia F, Armspach JP, Hirsch E, Marescaux C, Namer IJ.
Thiriaux A, et al. Among authors: de st martin a.
Mov Disord. 2002 Jan;17(1):98-104. doi: 10.1002/mds.1195.
Mov Disord. 2002.
PMID: 11835445
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium.
Panagiotakaki E, et al.
Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.
Orphanet J Rare Dis. 2015.
PMID: 26410222
Free PMC article.
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