Clinical study of late-onset Pyridoxine-dependent epilepsy_Journal of Epilepsy

Authors：

 OUYANG Mei , ZHOU Qing , LI Hua , HU Xiangshu , FEI Lingxia , ZHANG Peiji , JIN Yang , HU Weibing , LI Kaihui , PENG Kai , ZHOU Jinhua

Department of Epilepsy, Guangdong Sanjiu Brain Hospital, Guangzhou 510520, China;

Corresponding author：

OUYANG Mei, Email: oymsunny@sina.com

Keywords：

Pyridoxine-dependent epilepsy; ALDH7A1 gene; Drug-refractory epilepsy; Vitamin B6

DOI：

10.7507/2096-0247.20170077

Video：

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ObjectiveTo improve the knowledge of a rare disease named pyridoxine-dependent epilepsy.MethodsHigh-throughput sequencing and Sanger sequencing were used to validate the genes of epilepsy. Mutation gene validation was performed on two probands and their parents. Analyze clinical manifestations, electroencephalogram (EEG), imaging and prognostic features of the two probands.ResultsProbands 1, seizure onset at 4 months, progress as drug-refractory epilepsy, manifested as seizures types origin of multi-focal lesions. Head MRI and fluorodeoxyglucose-positron-based tomography (FDG-PET) were both normal. Gene detection showed that Aldehydedehydrogenase (ALDH7A1) gene has a complex heterozygous mutation contain c.1442G> and c.1046C> T.Proband 2, seizure onset at 5 months, manifested as a tonic-clonic seizure. Intermittent EEG and head MRI were both normal. Genotyping revealed ALDH7A1 gene contain a complex heterozygous mutation c.1547A> G and c.965C> T. Two cases were both seizure free by vitamin B6 therapy and gradually reduce the antiepileptic drugs.ConclusionsPyridoxine-dependent epilepsy may be late onset, some patient can be atypical and early experimental treatment can help to identify and the diagnosis should be confirmed by gene test.

Citation： OUYANG Mei, ZHOU Qing, LI Hua, HU Xiangshu, FEI Lingxia, ZHANG Peiji, JIN Yang, HU Weibing, LI Kaihui, PENG Kai, ZHOU Jinhua. Clinical study of late-onset Pyridoxine-dependent epilepsy. Journal of Epilepsy, 2017, 3(6): 484-489. doi: 10.7507/2096-0247.20170077 Copy

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10.	Bok LA, Halbertsma FJ, Houterman S, et al. Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol, 2012, 54(9): 849-854.
11.	Friedman SD, Ishak GE, Poliachik SL, et al. Callosal alterations in pyridoxine-dependent epilepsy. Dev Med Child Neurol, 2014, 56(11): 1106-1110.
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1. Gospe SM Jr. Neonatal vitamin-responsive epileptic encephalopathies. Chang Gung Med J, 2010, 33(1): 1-12.
2. Luo M, Tanner JJ. Structural basis of substrate recognition by aldehyde dehydrogenase 7A1. Biochemistry, 2015, 54(35): 5513-5522.
3. Struys EA, Nota B, Bakkali A, et al. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipicsemialdehyde in molybdenum cofactor deficiency. Pediatrics, 2012, 130(6): e1716-e1719.
4. 张晓莉, 王丽君, 贾天明, 等.基因确诊的吡哆醇依赖性癫痫一例.中国优生与遗传杂志, 2015, 23(10): 92-93.
5. 杨莉, 李玉芬, 徐丽云, 等.幼儿间断抽搐1年半伴发育落后.中国当代儿科杂志, 2017, 19(1): 73-76.
6. 杨莉, 李玉芬, 徐丽云, 等.幼儿间断抽搐1年半伴发育落后.中国当代儿科杂志, 2017, 19(1): 73-76.
7. 薛姣, 杨志仙, 李慧, 等.吡哆醇依赖性癫痫的临床和遗传学特点及尿液哌啶酸的检测.中华儿科杂志, 2016, 54(8): 592-596.
8. Plecko B, Paul K, Paschke E, et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat, 2007, 28(1): 19-26.
9. Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain, 2010, 133(Pt 7): 2148-2159.
10. Bok LA, Halbertsma FJ, Houterman S, et al. Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol, 2012, 54(9): 849-854.
11. Friedman SD, Ishak GE, Poliachik SL, et al. Callosal alterations in pyridoxine-dependent epilepsy. Dev Med Child Neurol, 2014, 56(11): 1106-1110.
12. Bok LA, Maurits NM, Willemsen MA, et al. The EEG response to pyridoxine-Ⅳ neither identifies nor excludes pyridoxine-dependent epilepsy. Epilepsia, 2010, 51(12): 2406-2411.

Journal of Epilepsy

Clinical study of late-onset Pyridoxine-dependent epilepsy

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