All individuals with variants in gene ATP5G2

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00016846 - PubMed: Zhang 2014 2-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents, brother of 24656866-FamIIPat2 M no France European - - - - MCPH1 born at 41w of gestation after uneventful pregnancy. At birth, he showed an OFC at 1 SD, normal body weight (tenth percentile), and normal height (51st percentile). Seizures 1st hour of life consisted clonic movements of the right hemiface and lower limbs, drooling, and cyanosis. Seizures were polymorphic, long lasting, and harmacoresistant. Ictal EEG showed a ‘‘migrating’’ pattern consistent with migrating partial seizures in infancy. He showed global hypotonia and lack of visual interaction. ;5.5y: profound psychomotor delay, microcephaly (3 SDs), active epilepsy with weekly seizures that were resistant to antiepileptic drugs (AEDs). Dysmorphisms: Coarse facies, hypoplastic helix of ear and prominent upper lip. 1 2 Marianne Vos (LOVD-team)
00016847 - PubMed: Zhang 2014 sister of 24656866-FamIIPat1 F no France European - - - - MCPH1 born full term after an uneventful pregnancy and delivery. OFC of 32 cm (1 SD), normal height (40th percentile), normal body weight (11th percentile). 1m: epilepsy, her first seizures were clonic with apnea and cyanosis. Clusters of focal polymorphic seizures then occurred about 2/month, were poorly controlled despite many AED trials. 5m: seizures occurred in clusters of 20–30 several times/day. Variable clinical manifestations: often mild and accompanied by eye deviation, chewing, apnea, cyanosis. Ictal EEG showed migrating focal seizures. 1y3m: head circumference below the 3d percentile, had severe hypotonia with global psychomotor delay. 3y: weekly seizures, failed to gain further developmental skills, microcephaly (2.5 SDs). 1 1 Marianne Vos (LOVD-team)
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