A novel homozygous mutation of

Chloride channel 2 (ClC-2) is one of nine ClC family proteins and is encoded by CLCN2. We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white ma...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Hoshi, Miyuki [verfasserIn] Koshimizu, Eriko [verfasserIn] Miyatake, Satoko [verfasserIn] Matsumoto, Naomichi [verfasserIn] Imamura, Atsushi [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2018

Schlagwörter:	MRI Chloride channel 2 (ClC-2) Homozygous frameshift mutation

Übergeordnetes Werk:	Enthalten in: Brain & development - Amsterdam [u.a.] : Elsevier Science, 1979, 41, Seite 101-105
Übergeordnetes Werk:	volume:41 ; pages:101-105

DOI / URN:	10.1016/j.braindev.2018.07.011

Katalog-ID:	ELV001210831

Internformat


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520			\|a Chloride channel 2 (ClC-2) is one of nine ClC family proteins and is encoded by CLCN2. We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white matter including the dentate nucleus, dorsal midbrain, and posterior limbs of the internal capsules in diffusion-weighted images, and apparent diffusion coefficient values were low in the same areas. Antiepileptic drugs were effective, and she had neither intellectual disabilities nor motor disturbance.
650		4	\|a MRI
650		4	\|a Chloride channel 2 (ClC-2)
650		4	\|a Homozygous frameshift mutation
700	1		\|a Koshimizu, Eriko \|e verfasserin \|4 aut
700	1		\|a Miyatake, Satoko \|e verfasserin \|4 aut
700	1		\|a Matsumoto, Naomichi \|e verfasserin \|4 aut
700	1		\|a Imamura, Atsushi \|e verfasserin \|4 aut
773	0	8	\|i Enthalten in \|t Brain & development \|d Amsterdam [u.a.] : Elsevier Science, 1979 \|g 41, Seite 101-105 \|h Online-Ressource \|w (DE-627)306654350 \|w (DE-600)1499913-4 \|w (DE-576)081984650 \|x 1872-7131 \|7 nnns
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912			\|a GBV_ILN_2003
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912			\|a GBV_ILN_2507
912			\|a GBV_ILN_2522
912			\|a GBV_ILN_4035
912			\|a GBV_ILN_4037
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912			\|a GBV_ILN_4393
936	b	k	\|a 44.90 \|j Neurologie
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allfields	10.1016/j.braindev.2018.07.011 doi (DE-627)ELV001210831 (ELSEVIER)S0387-7604(18)30342-5 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Hoshi, Miyuki verfasserin aut A novel homozygous mutation of 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chloride channel 2 (ClC-2) is one of nine ClC family proteins and is encoded by CLCN2. We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white matter including the dentate nucleus, dorsal midbrain, and posterior limbs of the internal capsules in diffusion-weighted images, and apparent diffusion coefficient values were low in the same areas. Antiepileptic drugs were effective, and she had neither intellectual disabilities nor motor disturbance. MRI Chloride channel 2 (ClC-2) Homozygous frameshift mutation Koshimizu, Eriko verfasserin aut Miyatake, Satoko verfasserin aut Matsumoto, Naomichi verfasserin aut Imamura, Atsushi verfasserin aut Enthalten in Brain & development Amsterdam [u.a.] : Elsevier Science, 1979 41, Seite 101-105 Online-Ressource (DE-627)306654350 (DE-600)1499913-4 (DE-576)081984650 1872-7131 nnns volume:41 pages:101-105 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 41 101-105
spelling	10.1016/j.braindev.2018.07.011 doi (DE-627)ELV001210831 (ELSEVIER)S0387-7604(18)30342-5 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Hoshi, Miyuki verfasserin aut A novel homozygous mutation of 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chloride channel 2 (ClC-2) is one of nine ClC family proteins and is encoded by CLCN2. We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white matter including the dentate nucleus, dorsal midbrain, and posterior limbs of the internal capsules in diffusion-weighted images, and apparent diffusion coefficient values were low in the same areas. Antiepileptic drugs were effective, and she had neither intellectual disabilities nor motor disturbance. MRI Chloride channel 2 (ClC-2) Homozygous frameshift mutation Koshimizu, Eriko verfasserin aut Miyatake, Satoko verfasserin aut Matsumoto, Naomichi verfasserin aut Imamura, Atsushi verfasserin aut Enthalten in Brain & development Amsterdam [u.a.] : Elsevier Science, 1979 41, Seite 101-105 Online-Ressource (DE-627)306654350 (DE-600)1499913-4 (DE-576)081984650 1872-7131 nnns volume:41 pages:101-105 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 41 101-105
allfields_unstemmed	10.1016/j.braindev.2018.07.011 doi (DE-627)ELV001210831 (ELSEVIER)S0387-7604(18)30342-5 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Hoshi, Miyuki verfasserin aut A novel homozygous mutation of 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chloride channel 2 (ClC-2) is one of nine ClC family proteins and is encoded by CLCN2. We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white matter including the dentate nucleus, dorsal midbrain, and posterior limbs of the internal capsules in diffusion-weighted images, and apparent diffusion coefficient values were low in the same areas. Antiepileptic drugs were effective, and she had neither intellectual disabilities nor motor disturbance. MRI Chloride channel 2 (ClC-2) Homozygous frameshift mutation Koshimizu, Eriko verfasserin aut Miyatake, Satoko verfasserin aut Matsumoto, Naomichi verfasserin aut Imamura, Atsushi verfasserin aut Enthalten in Brain & development Amsterdam [u.a.] : Elsevier Science, 1979 41, Seite 101-105 Online-Ressource (DE-627)306654350 (DE-600)1499913-4 (DE-576)081984650 1872-7131 nnns volume:41 pages:101-105 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 41 101-105
allfieldsGer	10.1016/j.braindev.2018.07.011 doi (DE-627)ELV001210831 (ELSEVIER)S0387-7604(18)30342-5 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Hoshi, Miyuki verfasserin aut A novel homozygous mutation of 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chloride channel 2 (ClC-2) is one of nine ClC family proteins and is encoded by CLCN2. We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white matter including the dentate nucleus, dorsal midbrain, and posterior limbs of the internal capsules in diffusion-weighted images, and apparent diffusion coefficient values were low in the same areas. Antiepileptic drugs were effective, and she had neither intellectual disabilities nor motor disturbance. MRI Chloride channel 2 (ClC-2) Homozygous frameshift mutation Koshimizu, Eriko verfasserin aut Miyatake, Satoko verfasserin aut Matsumoto, Naomichi verfasserin aut Imamura, Atsushi verfasserin aut Enthalten in Brain & development Amsterdam [u.a.] : Elsevier Science, 1979 41, Seite 101-105 Online-Ressource (DE-627)306654350 (DE-600)1499913-4 (DE-576)081984650 1872-7131 nnns volume:41 pages:101-105 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 41 101-105
allfieldsSound	10.1016/j.braindev.2018.07.011 doi (DE-627)ELV001210831 (ELSEVIER)S0387-7604(18)30342-5 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Hoshi, Miyuki verfasserin aut A novel homozygous mutation of 2018 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chloride channel 2 (ClC-2) is one of nine ClC family proteins and is encoded by CLCN2. We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white matter including the dentate nucleus, dorsal midbrain, and posterior limbs of the internal capsules in diffusion-weighted images, and apparent diffusion coefficient values were low in the same areas. Antiepileptic drugs were effective, and she had neither intellectual disabilities nor motor disturbance. MRI Chloride channel 2 (ClC-2) Homozygous frameshift mutation Koshimizu, Eriko verfasserin aut Miyatake, Satoko verfasserin aut Matsumoto, Naomichi verfasserin aut Imamura, Atsushi verfasserin aut Enthalten in Brain & development Amsterdam [u.a.] : Elsevier Science, 1979 41, Seite 101-105 Online-Ressource (DE-627)306654350 (DE-600)1499913-4 (DE-576)081984650 1872-7131 nnns volume:41 pages:101-105 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 41 101-105
language	English
source	Enthalten in Brain & development 41, Seite 101-105 volume:41 pages:101-105
sourceStr	Enthalten in Brain & development 41, Seite 101-105 volume:41 pages:101-105
format_phy_str_mv	Article
bklname	Neurologie
institution	findex.gbv.de
topic_facet	MRI Chloride channel 2 (ClC-2) Homozygous frameshift mutation
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container_title	Brain & development
authorswithroles_txt_mv	Hoshi, Miyuki @@aut@@ Koshimizu, Eriko @@aut@@ Miyatake, Satoko @@aut@@ Matsumoto, Naomichi @@aut@@ Imamura, Atsushi @@aut@@
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author	Hoshi, Miyuki
spellingShingle	Hoshi, Miyuki ddc 610 bkl 44.90 misc MRI misc Chloride channel 2 (ClC-2) misc Homozygous frameshift mutation A novel homozygous mutation of
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topic_title	610 DE-600 44.90 bkl A novel homozygous mutation of MRI Chloride channel 2 (ClC-2) Homozygous frameshift mutation
topic	ddc 610 bkl 44.90 misc MRI misc Chloride channel 2 (ClC-2) misc Homozygous frameshift mutation
topic_unstemmed	ddc 610 bkl 44.90 misc MRI misc Chloride channel 2 (ClC-2) misc Homozygous frameshift mutation
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title	A novel homozygous mutation of
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title_full	A novel homozygous mutation of
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author_browse	Hoshi, Miyuki Koshimizu, Eriko Miyatake, Satoko Matsumoto, Naomichi Imamura, Atsushi
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dewey-full	610
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title_sort	a novel homozygous mutation of
title_auth	A novel homozygous mutation of
abstract	Chloride channel 2 (ClC-2) is one of nine ClC family proteins and is encoded by CLCN2. We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white matter including the dentate nucleus, dorsal midbrain, and posterior limbs of the internal capsules in diffusion-weighted images, and apparent diffusion coefficient values were low in the same areas. Antiepileptic drugs were effective, and she had neither intellectual disabilities nor motor disturbance.
abstractGer	Chloride channel 2 (ClC-2) is one of nine ClC family proteins and is encoded by CLCN2. We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white matter including the dentate nucleus, dorsal midbrain, and posterior limbs of the internal capsules in diffusion-weighted images, and apparent diffusion coefficient values were low in the same areas. Antiepileptic drugs were effective, and she had neither intellectual disabilities nor motor disturbance.
abstract_unstemmed	Chloride channel 2 (ClC-2) is one of nine ClC family proteins and is encoded by CLCN2. We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white matter including the dentate nucleus, dorsal midbrain, and posterior limbs of the internal capsules in diffusion-weighted images, and apparent diffusion coefficient values were low in the same areas. Antiepileptic drugs were effective, and she had neither intellectual disabilities nor motor disturbance.
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title_short	A novel homozygous mutation of
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author2	Koshimizu, Eriko Miyatake, Satoko Matsumoto, Naomichi Imamura, Atsushi
author2Str	Koshimizu, Eriko Miyatake, Satoko Matsumoto, Naomichi Imamura, Atsushi
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doi_str	10.1016/j.braindev.2018.07.011
up_date	2024-07-06T20:36:05.848Z
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We report the first patient with a CLCN2 mutation in Japan. A 22-month-old female had generalized tonic-clonic convulsions at the age of 3 months. Brain MRI showed high signals in the bilateral cerebellar white matter including the dentate nucleus, dorsal midbrain, and posterior limbs of the internal capsules in diffusion-weighted images, and apparent diffusion coefficient values were low in the same areas. 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